Materiały źródłowe

• #1 Ambiguous Genitalia and Disorders of Sexual Differentiation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557435/

  The incidence of a child with a disorder of sexual development (DSD) is approximately 1 in 1000 to 4500 live births. The most frequently occurring etiology was congenital adrenal hyperplasia (CAH), followed by androgen insensitivity and mixed gonadal dysgenesis. […] Disorders of sexual development are defined as congenital conditions characterized by atypical development of chromosomal, gonadal, or anatomic sex.

• #2 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #2 Evaluation of the infant with atypical genital appearance (difference of sex development) – UpToDate

  https://www.uptodate.com/contents/evaluation-of-the-infant-with-atypical-genital-appearance-difference-of-sex-development

  Infants born with genitals that do not appear typically male or female, or that have an appearance discordant with the chromosomal sex (picture 1), are classified as having a difference (or disorder) of sex development (DSD; terminology discussed further below). DSDs with a genital appearance that is sufficiently atypical to prompt evaluation occur in approximately 1 in 1000 to 4500 live births […] The evaluation of the infant with a DSD is presented here. Specific causes of DSDs and the management of affected infants are discussed separately. (See „Causes of differences of sex development” and „Management of the infant with atypical genital appearance (difference of sex development).”)

• #3 Ambiguous Genitalia: Definition & Causes

  https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia

  Atypical genitalia occurs in about 1 in every 1,000 to 4,500 births. […] A diagnosis of ambiguous genitalia (atypical genitalia) in your newborn can be very distressing for you and your family. You need to discuss many medical, ethical and psychological issues with your family and healthcare team. Your team of healthcare providers can provide the information and counseling you need to help you make decisions about your babys sex and treatment. This way, you can provide the best quality of life and achieve the best possible outcomes for your child.

• #4 Ambiguous Genitalia (Disorders of Sexual Development) | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617552/all/Ambiguous_Genitalia__Disorders_of_Sexual_Development_?q=Tumor+Wilms

  Genital anomalies at birth have a prevalence as high as 1 in 300. […] Genital ambiguity has a prevalence of approximately 1 in 5,000 births. […] Disorders causing genital ambiguity are congenital and usually present in the newborn period. […] Later presentations can occur in older children and young adults.

• #5 Disorders of sexual development may be more common in newborns than previously thought | Endocrine Society

  https://www.endocrine.org/news-and-advocacy/news-room/2019/disorders-of-sexual-development-may-be-more-common-in-newborns-than-previously-thought

  Ambiguous genitalia in newborns may be more common than previously thought, according to a study published in the Endocrine Society’s Journal of the Endocrine Society. […] Our research found 18 babies with ambiguous genitalia among 14,177 newborns (1.3 in 1,000 births). This frequency is higher when compared to previous studies (1 in 4,500-5,500), said the study’s first author, Banu Kucukemre Aydin, M.D., of Istanbul University in Turkey. […] In the prospective study, researchers examined 14,177 newborns and found 18 of them had ambiguous genitalia. […] These findings support the hypothesis that early placental dysfunction and androgen deficiency might be important in the etiology of male genital anomalies, Aydin said.

• #6 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Disorders of sex development are a major pediatric issue, accounting for approximately 1% of all live births. However, the incidence varies between developed and developing countries. In Ghana, there is a paucity of information, but in other developing countries such as Saudi Arabia incidence is reported as 1 in 2500 live births and in Egypt 1 in 3000 live births. In a developed country such as Germany, the incidence is as low as 2 per 10,000 live births. The high rate of DSD was hypothesized to result from higher consanguinity among populations of developing countries than among those from developed countries. The underlying cause of ambiguous genitalia in a newborn/child needs extensive and urgent investigation to avoid missing a life-threatening problem such as congenital adrenal hyperplasia (CAH), which is a major presentation of DSD.

• #7 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Disorders of sex development are a major pediatric issue, accounting for approximately 1% of all live births. However, the incidence varies between developed and developing countries. In Ghana, there is a paucity of information, but in other developing countries such as Saudi Arabia incidence is reported as 1 in 2500 live births and in Egypt 1 in 3000 live births. In a developed country such as Germany, the incidence is as low as 2 per 10,000 live births. The high rate of DSD was hypothesized to result from higher consanguinity among populations of developing countries than among those from developed countries. The underlying cause of ambiguous genitalia in a newborn/child needs extensive and urgent investigation to avoid missing a life-threatening problem such as congenital adrenal hyperplasia (CAH), which is a major presentation of DSD.

• #8 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  DSDs vary in frequency, depending on their etiology. CAH is the most common cause of DSDs, with a reported incidence ranging from 1 in 5000 to 1 in 15,000 in the United States and Europe. The frequency is highest in neonates of European Jewish, Hispanic, Slavic, or Italian descent or the Alaskan Eskimo population. […] MGD is the second most common cause of DSDs. In a series from the Childrens Hospital of Boston DSDs were found in 50% of children with hypospadias with unilateral or bilateral nonpalpable cryptorchid testes. […] Therefore, clinicians should suspect the possibility of a DSD in patients with both hypospadias and cryptorchidism.

• #9 Ambiguous Genitalia | Doctor

  https://patient.info/doctor/ambiguous-genitalia

  Ambiguous genitalia may be a result of a disorder of sexual development (DSD), previously called intersex conditions. […] How common is ambiguous genitalia? (Epidemiology) DSDs are caused by a variety of different conditions which vary greatly in incidence: Genital anomalies are estimated to occur in 1 in 4,500 births. […] The most common cause of ambiguous genitalia in the newborn is congenital adrenal hyperplasia (CAH). A study found that the UK incidence is approximately one in 18,000 births. […] CAH appears to be more common in those of European Jewish, Hispanic, Slavic and Italian descent. […] Mixed gonadal dysgenesis (MGD) is the next most common cause of ambiguous genitalia. […] Hypospadias is quite common (1 in 300 live births) but this is combined with undescended testes in less than 1% of such cases.

• #10 Ambiguous Genitalia and Disorders of Sexual Differentiation | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17428

  The incidence of a child with a disorder of sexual development (DSD) is approximately 1 in 1000 to 4500 live births. […] The most frequently occurring etiology was congenital adrenal hyperplasia (CAH), followed by androgen insensitivity and mixed gonadal dysgenesis.

• #11 Ambiguous Genitalia | Doctor

  https://patient.info/doctor/ambiguous-genitalia

  Ambiguous genitalia may be a result of a disorder of sexual development (DSD), previously called intersex conditions. […] How common is ambiguous genitalia? (Epidemiology) DSDs are caused by a variety of different conditions which vary greatly in incidence: Genital anomalies are estimated to occur in 1 in 4,500 births. […] The most common cause of ambiguous genitalia in the newborn is congenital adrenal hyperplasia (CAH). A study found that the UK incidence is approximately one in 18,000 births. […] CAH appears to be more common in those of European Jewish, Hispanic, Slavic and Italian descent. […] Mixed gonadal dysgenesis (MGD) is the next most common cause of ambiguous genitalia. […] Hypospadias is quite common (1 in 300 live births) but this is combined with undescended testes in less than 1% of such cases.

• #12 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  DSDs vary in frequency, depending on their etiology. CAH is the most common cause of DSDs, with a reported incidence ranging from 1 in 5000 to 1 in 15,000 in the United States and Europe. The frequency is highest in neonates of European Jewish, Hispanic, Slavic, or Italian descent or the Alaskan Eskimo population. […] MGD is the second most common cause of DSDs. In a series from the Childrens Hospital of Boston DSDs were found in 50% of children with hypospadias with unilateral or bilateral nonpalpable cryptorchid testes. […] Therefore, clinicians should suspect the possibility of a DSD in patients with both hypospadias and cryptorchidism.

• #13 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  DSDs vary in frequency, depending on their etiology. CAH is the most common cause of DSDs, with a reported incidence ranging from 1 in 5000 to 1 in 15,000 in the United States and Europe. The frequency is highest in neonates of European Jewish, Hispanic, Slavic, or Italian descent or the Alaskan Eskimo population. […] MGD is the second most common cause of DSDs. In a series from the Childrens Hospital of Boston DSDs were found in 50% of children with hypospadias with unilateral or bilateral nonpalpable cryptorchid testes. […] Therefore, clinicians should suspect the possibility of a DSD in patients with both hypospadias and cryptorchidism.

• #14 Ambiguous Genitalia | Doctor

  https://patient.info/doctor/ambiguous-genitalia

  Ambiguous genitalia may be a result of a disorder of sexual development (DSD), previously called intersex conditions. […] How common is ambiguous genitalia? (Epidemiology) DSDs are caused by a variety of different conditions which vary greatly in incidence: Genital anomalies are estimated to occur in 1 in 4,500 births. […] The most common cause of ambiguous genitalia in the newborn is congenital adrenal hyperplasia (CAH). A study found that the UK incidence is approximately one in 18,000 births. […] CAH appears to be more common in those of European Jewish, Hispanic, Slavic and Italian descent. […] Mixed gonadal dysgenesis (MGD) is the next most common cause of ambiguous genitalia. […] Hypospadias is quite common (1 in 300 live births) but this is combined with undescended testes in less than 1% of such cases.

• #15 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  DSDs vary in frequency, depending on their etiology. CAH is the most common cause of DSDs, with a reported incidence ranging from 1 in 5000 to 1 in 15,000 in the United States and Europe. The frequency is highest in neonates of European Jewish, Hispanic, Slavic, or Italian descent or the Alaskan Eskimo population. […] MGD is the second most common cause of DSDs. In a series from the Childrens Hospital of Boston DSDs were found in 50% of children with hypospadias with unilateral or bilateral nonpalpable cryptorchid testes. […] Therefore, clinicians should suspect the possibility of a DSD in patients with both hypospadias and cryptorchidism.

• #16 Ambiguous genitalia and disorders of sexual development (DSD)

  https://www.utmb.edu/pedi_ed/CoreV2/Endocrine/Endocrine7.html

  Ambiguous genitalia and disorders of sexual development (DSD) can be associated with ambiguous genitalia (i.e., external genitals neither appearing clearly male nor female). […] The most common DSDs are: Klinefelter Syndrome, Turner Syndrome, Mixed gonadal dysgenesis, Congenital adrenal hyperplasia (CAH), Androgen insensitivity syndrome, Cryptorchidism. […] Cryptorchidism means that the testis is not in the scrotum and is not descended by 4 months old. This is the most common congenital abnormality in boys, present in 2-4% of term male infants.

• #17 Ambiguous Genitalia | Doctor

  https://patient.info/doctor/ambiguous-genitalia

  Ambiguous genitalia may be a result of a disorder of sexual development (DSD), previously called intersex conditions. […] How common is ambiguous genitalia? (Epidemiology) DSDs are caused by a variety of different conditions which vary greatly in incidence: Genital anomalies are estimated to occur in 1 in 4,500 births. […] The most common cause of ambiguous genitalia in the newborn is congenital adrenal hyperplasia (CAH). A study found that the UK incidence is approximately one in 18,000 births. […] CAH appears to be more common in those of European Jewish, Hispanic, Slavic and Italian descent. […] Mixed gonadal dysgenesis (MGD) is the next most common cause of ambiguous genitalia. […] Hypospadias is quite common (1 in 300 live births) but this is combined with undescended testes in less than 1% of such cases.

• #18 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #19 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #20 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Family history may play a role in the development of atypical genitalia. This is because many differences of sex development result from gene changes that can be passed down in families. […] Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex.

• #21 Ambiguous genitalia | Lima Memorial Health System

  https://www.limamemorial.org/health-library/HIE%20Multimedia-TextOnly/1/003269

  Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. This condition is also called uncertain genitalia or atypical genitalia. Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Ambiguous genitalia may be discovered during the first well-baby exam. […] There have been significant changes in treating ambiguous genitalia. In the past, the external genitals were prioritized over chromosomes. Expert opinion has shifted to understanding that chromosomal, neural, hormonal, psychological, and behavioral factors can all have an influence on an individual.

• #22 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Family history may play a role in the development of atypical genitalia. This is because many differences of sex development result from gene changes that can be passed down in families. […] Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex.

• #23 Ambiguous Genitalia (Disorders of Sexual Development) | 5-Minute Pediatric Consult

  https://peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/617552/all/Ambiguous_Genitalia__Disorders_of_Sexual_Development_?q=Tumor+Wilms

  Genital anomalies at birth have a prevalence as high as 1 in 300. […] Genital ambiguity has a prevalence of approximately 1 in 5,000 births. […] Disorders causing genital ambiguity are congenital and usually present in the newborn period. […] Later presentations can occur in older children and young adults.

• #24 Ambiguous Genitalia | SpringerLink

  https://link.springer.com/10.1007/978-1-4614-6430-3_10-2

  Most cases of ambiguous genitalia are discovered at birth, occurring approximately once in every 1,000 live births. […] Genital ambiguity usually is due to virilization of genetic females or undervirilization of genetic males who have normal gonads. […] In females, congenital adrenal hyperplasia (CAH), specifically 21-hydroxylase deficiency, is the most common condition leading to inappropriate virilization. […] In males, defects in testosterone production, metabolism, or peripheral action can lead to ambiguous genitalia. […] Later presentations of ambiguous genitalia often include previously unrecognized genital ambiguity, inguinal hernia in a girl (e.g., complete androgen insensitivity), delayed or incomplete puberty, primary amenorrhea or virilization in a girl, breast development in a boy, and gross or cyclic hematuria in a boy (unrecognized virilized 46,XX with CAH).

• #25 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #26 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #27

  https://trendspediatrics.com/article/view/63

  Infants born with genitals that do not appear typically male or female, are classified as having a difference/disorder of sex development (DSD). […] A newborn with DSD must be evaluated timely by a multi-disciplinary team including endocrinologist, psychologist, and urologist. […] Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes. […] For this reason, establishing correct communication with the patient and his/her family and providing appropriate information play a central role in DSD management and correct diagnosis and correct treatment.

• #28 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Clinical management of DSDs is carried out per the classification proposed by the Paediatric Endocrinology Society Lawson Wilkins and the European Society of Paediatric Endocrinology. The management of patients with DSD and related conditions is focused on four aspects: (1) etiological diagnosis, (2) assignment of gender, (3) indication for and timing of genital surgery, and (4) disclosure of medical information to the patient. Thorough clinical, hormonal, radiological, chromosomal, and molecular evaluations are therefore essential. However, a prompt evaluation of these assignments may be challenging for accurate diagnosis and appropriate therapy, especially in resource-deprived countries. Satisfactory management of these children does not merely demand early diagnosis and appropriate treatment, but gender assignment will produce a positive impact on the outcome. Failure of the appropriate approach causes great discomfort for family and healthcare providers.

• #29 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Clinical management of DSDs is carried out per the classification proposed by the Paediatric Endocrinology Society Lawson Wilkins and the European Society of Paediatric Endocrinology. The management of patients with DSD and related conditions is focused on four aspects: (1) etiological diagnosis, (2) assignment of gender, (3) indication for and timing of genital surgery, and (4) disclosure of medical information to the patient. Thorough clinical, hormonal, radiological, chromosomal, and molecular evaluations are therefore essential. However, a prompt evaluation of these assignments may be challenging for accurate diagnosis and appropriate therapy, especially in resource-deprived countries. Satisfactory management of these children does not merely demand early diagnosis and appropriate treatment, but gender assignment will produce a positive impact on the outcome. Failure of the appropriate approach causes great discomfort for family and healthcare providers.

• #30 Atypical Genitalia | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/kidney-urinary-and-genital/atypical-genitalia

  Atypical genitalia falls into a group of conditions known as differences of sexual development (DSDs), which affect approximately 1 in every 4,500 newborns. […] After delivery, specialists from Urology, Endocrinology and Genetics typically assess babies with atypical genitalia in order to assist with assigning the babys sex as well as to look for any associated conditions that might affect the babys overall well-being. […] Most individuals born with atypical genitalia live healthy lives and have a normal life expectancy. […] Babies with atypical genitalia are typically stable at birth and able to be delivered normally. […] After sex has been assigned, a baby with a DSD may require surgeries, medications, and/or additional follow-up with pediatric specialists.

• #31 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/genital-tract/ambiguous-genitalia

  Follow up: In families with congenital adrenal hyperplasia, administering dexamethasome to the pregnant woman from 6 weeks gestation can minimize the effect of androgens on the genitalia and the developing brain. If the fetus is male, steroids should be discontinued. Follow-up scans every 4 weeks to monitor growth and evolution of genitalia. […] Delivery: Standard obstetric care but delivery should be in a tertiary center. […] Prognosis: Treatment of a neonate with ambiguous genitalia should be performed by a multidisciplinary team, including geneticists, pediatric endocrinologists, and pediatric urologist. There is controversy concerning sex assignment and the need or not of reconstructive surgery. […] Recurrence: Congenital adrenal hyperplasia: 25%.

• #32 Atypical genitalia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257

  Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Family history may play a role in the development of atypical genitalia. This is because many differences of sex development result from gene changes that can be passed down in families. […] Atypical genitalia is usually diagnosed at birth or shortly after. Sometimes, healthcare professionals may suspect atypical genitalia during pregnancy when results of blood tests of the unborn baby’s sex differ from the ultrasound imaging of the baby’s genitalia. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex.

• #33 Ambiguous Genitalia Causes, Symptoms, Diagnosis and Treatment – Cura4U

  https://cura4u.com/conditions/ambiguous-genitalia

  The risk of ambiguous genitalia is higher in those who have a positive family history of genetic abnormalities that cause sex disorders. The risk is increased if you have a family history of known genetic sex disorders, unexplained deaths during infancy, absence of menstrual cycle, infertility, females having excessive facial hair, abnormal development during puberty, and congenital adrenal hyperplasia. The last case is a genetic disease affecting a persons adrenal glands. In the presence of any of these risk factors, counseling is required before you attempt to conceive. […] The incidence of a child being born with ambiguous genitalia is approximately 1 in 4500. It can vary in different parts of the world, but it is estimated that 1% of all newborns have some degree of ambiguous genitalia.

• #34 Ambiguous Genitalia Causes, Symptoms, Diagnosis and Treatment – Cura4U

  https://cura4u.com/conditions/ambiguous-genitalia

  The risk of ambiguous genitalia is higher in those who have a positive family history of genetic abnormalities that cause sex disorders. The risk is increased if you have a family history of known genetic sex disorders, unexplained deaths during infancy, absence of menstrual cycle, infertility, females having excessive facial hair, abnormal development during puberty, and congenital adrenal hyperplasia. The last case is a genetic disease affecting a persons adrenal glands. In the presence of any of these risk factors, counseling is required before you attempt to conceive. […] The incidence of a child being born with ambiguous genitalia is approximately 1 in 4500. It can vary in different parts of the world, but it is estimated that 1% of all newborns have some degree of ambiguous genitalia.

• #35 Ambiguous Genitalia Causes, Symptoms, Diagnosis and Treatment – Cura4U

  https://cura4u.com/conditions/ambiguous-genitalia

  The risk of ambiguous genitalia is higher in those who have a positive family history of genetic abnormalities that cause sex disorders. The risk is increased if you have a family history of known genetic sex disorders, unexplained deaths during infancy, absence of menstrual cycle, infertility, females having excessive facial hair, abnormal development during puberty, and congenital adrenal hyperplasia. The last case is a genetic disease affecting a persons adrenal glands. In the presence of any of these risk factors, counseling is required before you attempt to conceive. […] The incidence of a child being born with ambiguous genitalia is approximately 1 in 4500. It can vary in different parts of the world, but it is estimated that 1% of all newborns have some degree of ambiguous genitalia.

• #36 The Fetal Medicine Foundation

  https://fetalmedicine.org/education/fetal-abnormalities/genital-tract/ambiguous-genitalia

  Follow up: In families with congenital adrenal hyperplasia, administering dexamethasome to the pregnant woman from 6 weeks gestation can minimize the effect of androgens on the genitalia and the developing brain. If the fetus is male, steroids should be discontinued. Follow-up scans every 4 weeks to monitor growth and evolution of genitalia. […] Delivery: Standard obstetric care but delivery should be in a tertiary center. […] Prognosis: Treatment of a neonate with ambiguous genitalia should be performed by a multidisciplinary team, including geneticists, pediatric endocrinologists, and pediatric urologist. There is controversy concerning sex assignment and the need or not of reconstructive surgery. […] Recurrence: Congenital adrenal hyperplasia: 25%.

• #37 Internet Scientific Publications

  https://ispub.com/IJEN/6/2/8981

  Ambiguous external genitalia (AEG) are manifestations of Disorder of Sex Development (DSD). […] The prevalence and incidence of ambiguous external genitalia amongst newborns have not been well documented in developing countries, however in studies done in developed countries, a prevalence of 1-1.7% have been reported amongst newborns. […] In developed countries, inutero diagnosis and availability of diagnostic facilities have aided early detection and proper management of AEG without complications. […] Unfortunately, in resource poor countries, varying age at presentation and late diagnosis occur due to poor awareness of AEG by some clinicians and parents, coupled with limited diagnostic abilities and facilities. […] Most patients with AEG who are not discovered at birth rarely seek medical attention and may present later with various complications including precocious puberty, infertility and urinary outlet obstruction.

• #38 Internet Scientific Publications

  https://ispub.com/IJEN/6/2/8981

  Ambiguous external genitalia (AEG) are manifestations of Disorder of Sex Development (DSD). […] The prevalence and incidence of ambiguous external genitalia amongst newborns have not been well documented in developing countries, however in studies done in developed countries, a prevalence of 1-1.7% have been reported amongst newborns. […] In developed countries, inutero diagnosis and availability of diagnostic facilities have aided early detection and proper management of AEG without complications. […] Unfortunately, in resource poor countries, varying age at presentation and late diagnosis occur due to poor awareness of AEG by some clinicians and parents, coupled with limited diagnostic abilities and facilities. […] Most patients with AEG who are not discovered at birth rarely seek medical attention and may present later with various complications including precocious puberty, infertility and urinary outlet obstruction.

• #39 Genetic counseling in atypical genitalia: Challenges and proposed communication approach – Wadia Journal of Women and Child Health

  https://wjwch.com/genetic-counseling-in-atypical-genitalia-challenges-and-proposed-communication-approach/

  Atypical genitalia (AG) is a rare condition in which a child’s external genitals are not properly distinguished. The prevalence of AG is 1 in 1000 to 4500 live births. […] Identification of genetic causes in such children is important for appropriate genetic counseling. Genetic counseling for the parents and conveying the test results is very challenging considering the complexity and sensitivity of the information to be shared. […] The article highlights the importance of genetic counseling, challenges in genetic counseling, and proposes a simple but effective communication approach in AG. […] The limited number and availability of medical geneticists and genetic counselors is a major challenge in developing countries like India. […] In developing countries like India, an effective drive for sex education is not in place, and hence there is limited understanding of sexual development in individuals and parents. […] Time taken for chromosomal karyotype report is also one of the concerns as it takes around weeks time. […] DSD is a complex congenital condition. Laboratory genetic diagnosis is very important for counseling parents or patient.

• #40 Internet Scientific Publications

  https://ispub.com/IJEN/6/2/8981

  Ambiguous external genitalia (AEG) are manifestations of Disorder of Sex Development (DSD). […] The prevalence and incidence of ambiguous external genitalia amongst newborns have not been well documented in developing countries, however in studies done in developed countries, a prevalence of 1-1.7% have been reported amongst newborns. […] In developed countries, inutero diagnosis and availability of diagnostic facilities have aided early detection and proper management of AEG without complications. […] Unfortunately, in resource poor countries, varying age at presentation and late diagnosis occur due to poor awareness of AEG by some clinicians and parents, coupled with limited diagnostic abilities and facilities. […] Most patients with AEG who are not discovered at birth rarely seek medical attention and may present later with various complications including precocious puberty, infertility and urinary outlet obstruction.

• #41 Internet Scientific Publications

  https://ispub.com/IJEN/6/2/8981

  Ambiguous external genitalia (AEG) are manifestations of Disorder of Sex Development (DSD). […] The prevalence and incidence of ambiguous external genitalia amongst newborns have not been well documented in developing countries, however in studies done in developed countries, a prevalence of 1-1.7% have been reported amongst newborns. […] In developed countries, inutero diagnosis and availability of diagnostic facilities have aided early detection and proper management of AEG without complications. […] Unfortunately, in resource poor countries, varying age at presentation and late diagnosis occur due to poor awareness of AEG by some clinicians and parents, coupled with limited diagnostic abilities and facilities. […] Most patients with AEG who are not discovered at birth rarely seek medical attention and may present later with various complications including precocious puberty, infertility and urinary outlet obstruction.

• #42 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC

  https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/

  Disorders of sex development (DSD) are relatively rare conditions with diverse pathophysiology. […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features. […] The process of bringing together some of the initial information usually takes about 5 working days. […] All abnormal sex chromosome results should be flagged to the on-call endocrine consultant once identified. […] In some cases, however, where sex assignment is difficult and/or the chromosome result is complicated, laparoscopy may be required, and the process may take longer and often up to 2 weeks.

• #43 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC

  https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/

  Disorders of sex development (DSD) are relatively rare conditions with diverse pathophysiology. […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features. […] The process of bringing together some of the initial information usually takes about 5 working days. […] All abnormal sex chromosome results should be flagged to the on-call endocrine consultant once identified. […] In some cases, however, where sex assignment is difficult and/or the chromosome result is complicated, laparoscopy may be required, and the process may take longer and often up to 2 weeks.

• #44 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC

  https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/

  Disorders of sex development (DSD) are relatively rare conditions with diverse pathophysiology. […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features. […] The process of bringing together some of the initial information usually takes about 5 working days. […] All abnormal sex chromosome results should be flagged to the on-call endocrine consultant once identified. […] In some cases, however, where sex assignment is difficult and/or the chromosome result is complicated, laparoscopy may be required, and the process may take longer and often up to 2 weeks.

• #45 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC

  https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/

  Depending on the case, ongoing management may require the help of several members of the DSD MDT. […] As a default, all cases of suspected DSD should be reviewed at the second Monday of the month clinic held by Prof Ahmed at RHC. […] A nationwide study of the prevalence and initial management of atypical genitalia in the newborn in Scotland.

• #46 Atypical Genitalia | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/kidney-urinary-and-genital/atypical-genitalia

  Atypical genitalia falls into a group of conditions known as differences of sexual development (DSDs), which affect approximately 1 in every 4,500 newborns. […] After delivery, specialists from Urology, Endocrinology and Genetics typically assess babies with atypical genitalia in order to assist with assigning the babys sex as well as to look for any associated conditions that might affect the babys overall well-being. […] Most individuals born with atypical genitalia live healthy lives and have a normal life expectancy. […] Babies with atypical genitalia are typically stable at birth and able to be delivered normally. […] After sex has been assigned, a baby with a DSD may require surgeries, medications, and/or additional follow-up with pediatric specialists.

• #47 Ambiguous genitalia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/symptoms/ambiguous-genitalia

  Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. They may have features of both sexes or not be fully developed. The characteristics of the child’s genitals may not match their internal sex organs or their genetic sex. […] Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Ambiguous genitalia may be discovered during the first well-baby exam. […] There have been significant changes in treating ambiguous genitalia. In the past, the external genitals were prioritized over chromosomes. Expert opinion has shifted to understanding that chromosomal, neural, hormonal, psychological, and behavioral factors can all have an influence on an individual.

• #48 Atypical Genitalia | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/kidney-urinary-and-genital/atypical-genitalia

  Atypical genitalia falls into a group of conditions known as differences of sexual development (DSDs), which affect approximately 1 in every 4,500 newborns. […] After delivery, specialists from Urology, Endocrinology and Genetics typically assess babies with atypical genitalia in order to assist with assigning the babys sex as well as to look for any associated conditions that might affect the babys overall well-being. […] Most individuals born with atypical genitalia live healthy lives and have a normal life expectancy. […] Babies with atypical genitalia are typically stable at birth and able to be delivered normally. […] After sex has been assigned, a baby with a DSD may require surgeries, medications, and/or additional follow-up with pediatric specialists.

• #49 Disorders of Sexual Differentiation Program – Children’s Hospital of Orange County

  https://choc.org/programs-services/urology/disorders-sexual-differentiation-program/

  When a child’s gender is in question at birth because genitals may not appear clearly male or female, the child is said to have atypical genitalia (also known as ambiguous genitalia). Atypical genitalia can be a stressful experience for parents. […] The CHOC Urology Center is highly recognized in the realm of treating children with these disorders, both emotionally and physically, with extensive expertise in genital reconstructive surgery. Our Disorders of Sexual Differentiation Program team has been on the forefront of research in this area. […] Children with DSD will normally have atypical-appearing genitalia (genitalia that do not look normal) at birth. Atypical genitalia may make determining the child’s sex more difficult. […] The disorders below are some of the most common disorders of sex differentiation that cause atypical genitalia. […] With proper medical, surgical and psychosocial care, most children with disorders of sexual differentiation (DSD) lead healthy, normal lives.

• #50 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Clinical management of DSDs is carried out per the classification proposed by the Paediatric Endocrinology Society Lawson Wilkins and the European Society of Paediatric Endocrinology. The management of patients with DSD and related conditions is focused on four aspects: (1) etiological diagnosis, (2) assignment of gender, (3) indication for and timing of genital surgery, and (4) disclosure of medical information to the patient. Thorough clinical, hormonal, radiological, chromosomal, and molecular evaluations are therefore essential. However, a prompt evaluation of these assignments may be challenging for accurate diagnosis and appropriate therapy, especially in resource-deprived countries. Satisfactory management of these children does not merely demand early diagnosis and appropriate treatment, but gender assignment will produce a positive impact on the outcome. Failure of the appropriate approach causes great discomfort for family and healthcare providers.

• #51 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Clinical management of DSDs is carried out per the classification proposed by the Paediatric Endocrinology Society Lawson Wilkins and the European Society of Paediatric Endocrinology. The management of patients with DSD and related conditions is focused on four aspects: (1) etiological diagnosis, (2) assignment of gender, (3) indication for and timing of genital surgery, and (4) disclosure of medical information to the patient. Thorough clinical, hormonal, radiological, chromosomal, and molecular evaluations are therefore essential. However, a prompt evaluation of these assignments may be challenging for accurate diagnosis and appropriate therapy, especially in resource-deprived countries. Satisfactory management of these children does not merely demand early diagnosis and appropriate treatment, but gender assignment will produce a positive impact on the outcome. Failure of the appropriate approach causes great discomfort for family and healthcare providers.

• #52 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Managing an adult with ambiguous external genitalia requiring surgical intervention is extremely rare as patients with various spectra of the disease requiring surgical intervention most probably would have received it during childhood or adolescence. The current practice for managing these diseases is an early multidisciplinary approach that often includes early surgical evaluation and possible reconstruction, at most deferring until adolescence. The early approach in assigning gender is influenced by the desire to limit identity crisis, which is believed to help reduce parental anxiety, satisfy some unique sex-related cultural practices, and above all, help in the sociocultural growth of the child. […] Advocates for deferral of surgical intervention raise concern that the influence of high maternal estrogen levels that causes clitoromegaly could be mistaken for male phallus, leading to wrong gender assignment. Continuous psychological counseling while delaying vaginoplasty is currently considered. This approach is believed to allow for tissue growth that will make surgery relatively easy. Full patient participation in the evaluation and treatment, as in this case under review, is critical. The optimal timing of the surgery remains unclear.

• #53 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features. Many causes have a genetic basis. A very rare exception may occur when there is virilization of a 46,XX fetus by maternal virilizing tumors or maternal exposure to androgenic drugs. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain.

• #54 Ambiguous genitalia | Lima Memorial Health System

  https://www.limamemorial.org/health-library/HIE%20Multimedia-TextOnly/1/003269

  Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. This condition is also called uncertain genitalia or atypical genitalia. Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Ambiguous genitalia may be discovered during the first well-baby exam. […] There have been significant changes in treating ambiguous genitalia. In the past, the external genitals were prioritized over chromosomes. Expert opinion has shifted to understanding that chromosomal, neural, hormonal, psychological, and behavioral factors can all have an influence on an individual.

• #55 Disorders of Sex Development – Stanford Medicine Children’s Health

  https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079

  It is the most common cause of atypical genitalia in newborns. […] Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.

• #56 Pediatric Differences in Sex Development – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/differences-in-sex-development

  Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.

• #57 Pediatric Differences in Sex Development – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/differences-in-sex-development

  When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Many genetic and environmental factors can affect the developing baby and lead to atypical genitalia. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Atypical genitalia is the most common cause of atypical genitalia in newborns. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy.

• #58 Internet Scientific Publications

  https://ispub.com/IJEN/6/2/8981

  The finding of associated obstructive uropathy with consequent chronic renal failure was an uncommon complication of AEG. […] The evaluation of children with ambiguous genitalia is an emergency and requires immediate specialized care. […] The eventual cause of death in our patient was End stage renal failure (ESRF). […] Late presentation, ignorance and poverty contributed to development of ESRF in this case. […] In conclusion, AEG with urological abnormality is a preventable cause of ESRD.

• #59 Ambiguous genitalia in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/ambiguous-genitalia-in-neonates

  Ambiguous genitalia occur in approximately one in 4,500 births. […] It is important to reassure parents and staff that many ambiguous sex trait variations occur naturally in humans. […] Early involvement of an experienced multidisciplinary team is important; advice from paediatric endocrinology should be sought early due to the risk of adrenal insufficiency in some scenarios, but also to help plan appropriate hormonal testing. […] The decision will be influenced by an amalgam of: the baby’s karyotype, gonadal status, internal and external genital duct status, potential for fertility and various future sexual functions, cultural influences.

• #60 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text

  https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2

  Disorders of sex development are a major pediatric issue, accounting for approximately 1% of all live births. However, the incidence varies between developed and developing countries. In Ghana, there is a paucity of information, but in other developing countries such as Saudi Arabia incidence is reported as 1 in 2500 live births and in Egypt 1 in 3000 live births. In a developed country such as Germany, the incidence is as low as 2 per 10,000 live births. The high rate of DSD was hypothesized to result from higher consanguinity among populations of developing countries than among those from developed countries. The underlying cause of ambiguous genitalia in a newborn/child needs extensive and urgent investigation to avoid missing a life-threatening problem such as congenital adrenal hyperplasia (CAH), which is a major presentation of DSD.

• #61 Disorders of Sex Development – Stanford Medicine Children’s Health

  https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079

  When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Atypical genitalia can be a difficult experience for families. […] Ambiguous genitalia may make it harder to determine a babys gender. But very few newborns with this condition have genitals that are so ambiguous that the healthcare provider cant figure out the gender at birth. […] The condition is inherited and passed on by an autosomal recessive gene. Autosomal recessive means that each parent carries one copy of the gene and passes on the gene to the child. Carrier parents have a 1 in 4 chance of having a child with this condition with each pregnancy.

• #62 Disorders of Sex Development | University Hospitals

  https://www.uhhospitals.org/health-information/health-and-wellness-library/article/pediatric-diseases-and-conditions-v0/disorders-of-sex-development

  When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Atypical genitalia is the most common cause of atypical genitalia in newborns. […] Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being.

• #63 Ambiguous Genitalia: Definition & Causes

  https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia

  Atypical genitalia occurs in about 1 in every 1,000 to 4,500 births. […] A diagnosis of ambiguous genitalia (atypical genitalia) in your newborn can be very distressing for you and your family. You need to discuss many medical, ethical and psychological issues with your family and healthcare team. Your team of healthcare providers can provide the information and counseling you need to help you make decisions about your babys sex and treatment. This way, you can provide the best quality of life and achieve the best possible outcomes for your child.

• #64

  https://trendspediatrics.com/article/view/63

  Infants born with genitals that do not appear typically male or female, are classified as having a difference/disorder of sex development (DSD). […] A newborn with DSD must be evaluated timely by a multi-disciplinary team including endocrinologist, psychologist, and urologist. […] Neonates with ambiguous genitalia have various clinical presentations, etiologies, and outcomes. […] For this reason, establishing correct communication with the patient and his/her family and providing appropriate information play a central role in DSD management and correct diagnosis and correct treatment.

• #65 Ambiguous genitalia in neonates | Safer Care Victoria

  https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/ambiguous-genitalia-in-neonates

  Ambiguous genitalia occur in approximately one in 4,500 births. […] It is important to reassure parents and staff that many ambiguous sex trait variations occur naturally in humans. […] Early involvement of an experienced multidisciplinary team is important; advice from paediatric endocrinology should be sought early due to the risk of adrenal insufficiency in some scenarios, but also to help plan appropriate hormonal testing. […] The decision will be influenced by an amalgam of: the baby’s karyotype, gonadal status, internal and external genital duct status, potential for fertility and various future sexual functions, cultural influences.

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