Materiały źródłowe

• #1 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  Symptoms of CAH vary. The symptoms depend on which gene is affected. They also depend on how greatly the adrenal glands lack one of the enzymes needed to make hormones. With CAH, the hormones that the body needs to work properly are thrown out of balance. That may lead to too little cortisol, too little aldosterone, too many androgens or a mix of these issues. […] Symptoms of classic CAH can include: […] Not enough cortisol. With classic CAH, the body doesn’t make enough of the hormone cortisol. This can cause problems keeping blood pressure, blood sugar and energy at healthy levels. It also can cause problems during physical stress such as illness. […] Adrenal crisis. People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This is known as an adrenal crisis. It can be life-threatening.

• #1 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  External genitals that don’t look typical. In female infants, some parts of the genitals on the outside of the body may look different than usual. For instance, the clitoris may be enlarged and resemble a penis. The labia may be partly closed and look like a scrotum. The tube through which urine leaves the body and the vagina may be one opening instead of two separate openings. The uterus, fallopian tubes and ovaries often develop in a typical manner. Male infants with CAH often have genitals that look typical but sometimes are enlarged. […] Too much androgen. An excess of the male sex hormone androgen can lead to short height and early puberty for children. Pubic hair and other signs of puberty may appear at a very early age. Serious acne also may occur. Extra androgen hormones in females may lead to facial hair, more body hair than usual and a deeper voice.

• #1 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  Altered growth. Children may grow fast. And their bones could be more developed than is typical for their age. Final height may be shorter than average. […] Fertility issues. These can include irregular menstrual periods or not having periods at all. Some women with classic CAH may have trouble becoming pregnant. Fertility issues sometimes can occur in men. […] Often, there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have symptoms. The condition is not found on routine infant blood screening tests. If symptoms occur, they usually appear in late childhood or early adulthood. […] Nonclassic CAH symptoms in children of either birth sex also can include: […] Symptoms of early puberty, such as growth of pubic hair sooner than usual. […] Serious acne.

• #1 Congenital adrenal hyperplasia – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/congenital-adrenal-hyperplasia/symptoms-causes/syc-20355205

  Rapid growth during childhood with bones that are more developed than is typical. […] Shorter than expected final height. […] Most often, classic CAH is found at birth through routine newborn screening tests. Or it’s found when a baby’s outer genitals do not look typical. CAH also may be detected when infants show symptoms of serious illness due to low levels of cortisol, aldosterone or both.

• #2 Congenital adrenal hyperplasia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20228117/

  Symptoms of CAH vary. The symptoms depend on which gene is affected. They also depend on how greatly the adrenal glands lack one of the enzymes needed to make hormones. With CAH, the hormones that the body needs to work properly are thrown out of balance. That may lead to too little cortisol, too little aldosterone, too many androgens or a mix of these issues. […] Symptoms of classic CAH can include: […] Not enough cortisol. With classic CAH, the body doesn’t make enough of the hormone cortisol. This can cause problems keeping blood pressure, blood sugar and energy at healthy levels. It also can cause problems during physical stress such as illness. […] Adrenal crisis. People with classic CAH can be seriously affected by a lack of cortisol, aldosterone or both. This is known as an adrenal crisis. It can be life-threatening.

• #2 Congenital adrenal hyperplasia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20228117/

  External genitals that don’t look typical. In female infants, some parts of the genitals on the outside of the body may look different than usual. For instance, the clitoris may be enlarged and resemble a penis. The labia may be partly closed and look like a scrotum. The tube through which urine leaves the body and the vagina may be one opening instead of two separate openings. The uterus, fallopian tubes and ovaries often develop in a typical manner. Male infants with CAH often have genitals that look typical but sometimes are enlarged. […] Too much androgen. An excess of the male sex hormone androgen can lead to short height and early puberty for children. Pubic hair and other signs of puberty may appear at a very early age. Serious acne also may occur. […] Extra androgen hormones in females may lead to facial hair, more body hair than usual and a deeper voice.

• #2 Congenital adrenal hyperplasia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20228117/

  Altered growth. Children may grow fast. And their bones could be more developed than is typical for their age. Final height may be shorter than average. […] Fertility issues. These can include irregular menstrual periods or not having periods at all. Some women with classic CAH may have trouble becoming pregnant. Fertility issues sometimes can occur in men. […] Often, there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have symptoms. The condition is not found on routine infant blood screening tests. If symptoms occur, they usually appear in late childhood or early adulthood. […] Nonclassic CAH symptoms in children of either birth sex also can include: […] Symptoms of early puberty, such as growth of pubic hair sooner than usual. […] Serious acne.

• #2 Congenital adrenal hyperplasia | Health Library | Memorial Health System

  https://www.mhsystem.org/health-library/con-20228117/

  Rapid growth during childhood with bones that are more developed than is typical. […] Shorter than expected final height. […] People who have classic CAH are at risk of a life-threatening condition called adrenal crisis. This emergency needs to be treated right away. Adrenal crisis can happen within the first few days after birth. It also can be triggered at any age by an infectious illness or physical stress such as surgery. […] With adrenal crisis, very low levels of cortisol in the blood can cause: […] Diarrhea. […] Vomiting. […] Dehydration. […] Confusion. […] Low blood sugar levels. […] Seizures. […] Shock. […] Coma. […] Aldosterone also may be low. This leads to dehydration, low sodium and high potassium levels. The nonclassic form of CAH doesn’t cause adrenal crisis. […] People who have either classic or nonclassic CAH may have irregular menstrual cycles and fertility issues.

• #3 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  Congenital adrenal hyperplasia, also called CAH, is a group of genetic disorders in which the two adrenal glands do not work properly. People inherit one gene that causes this disorder from each of their parents. This is known as a recessive genetic disorder. This means that carriers of the trait show no symptoms, but when one has a double dose of the trait, problems occur. The reason for these problems is that the adrenal glands, located on top of each kidney, cannot efficiently produce the hormones that are essential for body functions. People with CAH lack one of the enzymes (proteins that cause chemical changes in the body), steroid 21-hydroxylase. This results in low production of the hormone (cortisol) that helps the body respond to stress, and in most cases of classic CAH they lack another hormone (aldosterone) needed to retain sodium. Individuals affected by classic CAH caused by 21-hydroxylase deficiency produce excess adrenal steroids that lead to the production of testosterone and related male-like hormones. CAH can be severe (classic) and diagnosed in the newborn, but it can also be mild (nonclassic) and not show up until later childhood, adolescence or adulthood.

• #3 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  In many cases, female infants are diagnosed at birth because they have atypical or ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus). A male infant with classic CAH usually appears normal at birth, although he may have an enlarged penis. If a boy is not diagnosed in infancy, he may grow rapidly and show signs of early puberty. Any infant, boy or girl, who is not diagnosed and treated appropriately at birth, may have vomiting, weight loss, dehydration, shock, and even death. […] Classic CAH, usually first found in infancy or early childhood, is the most severe type of CAH. There are two forms: salt-wasting (meaning the body has trouble keeping the right amount of salt in the blood), in which the adrenal glands do not make enough cortisol and aldosterone, and non-salt wasting, in which the enzyme shortage is less severe and the adrenal glands make just enough aldosterone but not enough cortisol. If not found and treated, classic CAH can cause shock, coma, and death.

• #3 Congenital Adrenal Hyperplasia – National Adrenal Diseases Foundation

  https://www.nadf.us/congenital-adrenal-hyperplasia-cah.html

  Signs and symptoms in both males and females include: Early development of armpit and pubic hair, Rapid growth during childhood, Early or severe acne, Infertility or decreased fertility. Adolescent girls and adult women also may have: Masculine characteristics such as facial hair, acne and/or a deep voice, Infrequent or absent menstrual periods. […] With proper care, people with either type of CAH can live long and healthy lives.

• #4 Congenital Adrenal Hyperplasia | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia (CAH) is a group of genetic conditions affecting small glands on top of the kidneys called adrenal glands. Each person usually has two adrenal glands which look like little triangles. These glands produce the following hormones which are essential for the body’s growth and functioning: […] The classic form is the most severe and affects about 1 in 15,000 babies. It can be detected through newborn screening, which often helps to identify babies with this condition before they become seriously ill. People with classic 21-OHD CAH have adrenal insufficiency, meaning the adrenal glands cant make enough aldosterone or cortisol. Low levels of these hormones can lead to low blood pressure, low salt levels and low blood sugar. This can be urgent and infants may die without medical care.

• #5 Congenital Adrenal Hyperplasia | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/congenital-adrenal-hyperplasia

  Classic CAH is usually diagnosed in infancy or early childhood and is the most severe, life-threatening type. […] If not found and treated, classic CAH can cause shock, coma, and death. […] Symptoms of nonclassic CAH include early puberty in children and irregular menstrual periods, acne, and/or unwanted hair growth in women. […] A male infant with classic CAH usually appears normal at birth, although he may have an enlarged penis. After infancy, boys with classic CAH grow rapidly and show signs of early puberty. If infants with CAH are not diagnosed at birth, they may suffer from weight loss, vomiting, dehydration, diarrhea, changes in body chemistry, shock, heart problems, and coma. Undiagnosed classic CAH can be life-threatening. […] Signs and symptoms in both males and females include: Early development of armpit and pubic hair, Early or severe acne, Infertility or decreased fertility, Adolescent girls and adult women also may have: Masculine characteristics such as facial hair and a deep voice, Infrequent or absent menstrual periods. […] Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids (which might help with fertility) but might not need life-long treatment. With proper care, people with either type of CAH can live long and healthy lives.

• #6 What are the symptoms of congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms

  Symptoms of classic CAH due to 21-hydroxylase deficiency (the most common type of CAH) can be grouped into two types according to their severity: salt wasting and simple virilizing (also called non-salt wasting). […] Symptoms of classic CAH due to 11-hydroxylase deficiency are similar to those of simple virilizing CAH. About two-thirds of people with classic 11-hydroxylase deficiency also have high blood pressure (hypertension). […] Symptoms may include: Dehydration, Poor feeding, Diarrhea, Vomiting, Heart rhythm problems (arrhythmias), Low blood pressure, Very low blood sodium levels, Low blood glucose, Too much acid in the blood, called metabolic acidosis, Weight loss, Shock, a condition where not enough blood gets to the brain and other organs. Shock in infants with salt-wasting is called adrenal crisis. Signs include confusion, irritability, rapid heart rate, and/or coma.

• #6 What are the symptoms of congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms

  Simple virilizing CAH is the moderate form of classic 21-hydroxylase deficiency. This type of CAH involves less severe aldosterone deficiency. Therefore, there are no severe or life-threatening sodium-deficiency symptoms in newborns. Like salt-wasting CAH, simple virilizing CAH involves too little cortisol and too much androgen. Female newborns typically have ambiguous genitalia, and young children typically display virilization. […] Symptoms of nonclassic CAH can include: Rapid growth in childhood and early teens but shorter height than both parents, Early signs of puberty, Acne, Irregular menstrual periods (females), Fertility problems (in about 10% to 15% of women), Excess facial or body hair in women, Male-pattern baldness (hair loss near the temples), Enlarged penis (males), Small testicles (males).

• #6 What are the symptoms of congenital adrenal hyperplasia (CAH)? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/cah/conditioninfo/symptoms

  Salt-wasting CAH also involves symptoms caused by low cortisol and high androgens. These symptoms may include: In female newborns, external genitalia can be ambiguous, i.e., not typical female appearing, with normal internal reproductive organs (ovaries, uterus, and fallopian tubes), Enlarged genitalia in male newborns, Development of certain qualities called virilization in boys or girls before the normal age of puberty, sometimes as early as age 2 or 3. This is a condition characterized by: Rapid growth, Appearance of pubic and armpit hair, Deep voice, Failure to menstruate, or abnormal or irregular menstrual periods (females), Well-developed muscles, Enlarged penis (males), Unusually tall height as children, but being shorter than normal as adults, Possible difficulties getting pregnant (females), Excess facial hair (females), Early beard (males), Severe acne, Benign testicular tumors and infertility (males).

• #7 Orphanet: Congenital adrenal hyperplasia

  https://www.orpha.net/en/disease/detail/418

  A group of rare inherited endocrine disorders caused by a steroidogenic enzyme deficiency and characterized by adrenal insufficiency and variable degrees of hyper- or hypoandrogenism manifestations, depending on disease type and severity. […] The most frequent form of congenital adrenal hyperplasia (CAH) is classical CAH due to 21-hydroxylase deficiency which can further be divided into simple virilizing, salt wasting or non-classical (N) types. Girls present at birth with variable levels of virilization of external genitalia with variable degrees of clitoral enlargement and labial fusion. They have a normal uterus but abnormal vaginal development. The genital appearance of affected 46,XX infants is occasionally indistinguishable from that of male genitals but empty of gonads. Gonadal development is normal with ovarian function potentially normal. The external genitalia in boys are normal. Salt wasting forms of CAH lead to symptoms of dehydration, hypoglycemia and hypotension in the first few weeks of life and can be life threatening. Premature pubarche can be seen in children as well as accelerated growth velocity, accelerated skeletal maturation and precocious puberty (leading to reduced adult height). NCAH is often not diagnosed until adolescence when the first symptoms appear. Manifestations seen in females are hirsutism, acne, anovulation and menstrual irregularities. Males (and some females) are asymptomatic. Hirsutism continues in adulthood and women can suffer from chronic anovulation, fertility problems, and metabolic and cardiovascular disturbances. Other rare forms can present with arterial hypertension, craniofacial malformations and atypical external genitalia in both sexes.

• #7 Orphanet: Congenital adrenal hyperplasia

  https://www.orpha.net/en/disease/detail/418

  Lifelong hormone replacement therapy is needed to treat adrenal insufficiency and decrease elevated androgen levels, to allow for normal growth and puberty in children. Hydrocortisone regulates menstrual cycles and promotes fertility in adult females. […] With proper treatment patients may have a normal life expectancy. However, uncontrolled CAH may be associated with life-threatening acute adrenal insufficiency and a higher risk for comorbidities (metabolic, cardiovascular, subfertility).

• #8 Congenital Adrenal Hyperplasia (CAH)

  https://www.wadsworth.org/node/2589/printable/print

  There are three types of 21-hydroxylase deficiency related CAH: simple virilizing classic form, salt wasting classic form and non-classic form. Adult height is usually shorter than other family members for all three types. Reduced fertility can also occur in all three types. […] Salt wasting classic form: Babies with this form of CAH are at risk for life threatening adrenal crisis if not treated. Sodium is lost in the urine and the low sodium causes poor feeding, dehydration and vomiting. In addition, females have ambiguous genitalia (not clearly male or female). […] Simple virilizing classic form: Virilizing is the development of male secondary sex characteristics. Females with this form of CAH have ambiguous genitalia (not clearly male or female), but are not at risk for adrenal crisis.

• #9 Congenital Adrenal Hyperplasia – UCI Pediatric Urology

  https://ucipediatricurology.com/specialties/congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia, also known as CAH, is a set of genetic conditions that affect the function of the adrenal gland. A child with CAH is missing an enzyme that the adrenal gland uses to produce certain hormones. Without these hormones, the patient has no means to regulate their metabolism, immune system, blood pressure and other vital functions. There are several forms of CAH. most are detected at birth, while the others may take some time to diagnose. […] The symptoms of CAH vary and are dependent on the gene that is defective and how low enzyme levels are. There are distinct types of congenital adrenal hyperplasia. Classic CAH is the more severe types and is typically identified during infancy. Non-classic NAH is more common, and the effects are milder. Detection usually occurs during late childhood into early adulthood. Children who have inherited Classic CAH may experience: […] Reduced production of both cortisol and aldosterone […] Overproduction of male sex hormones (which can lead to abnormal genitalia in females) […] Adrenal crisis during infancy […] Early onset of hair growth in the pubic area.

• #10 Congenital adrenal hyperplasia — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/congenital-adrenal-hyperplasia/

  Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition caused by single gene anomalies in the enzymes involved in cortisol biosynthesis, most commonly 21-hydroxylase. This can lead to an inability of the body to cope with physiological stress and lead to virilisation. […] The most common form of CAH, responsible for over 90% of cases, is caused by a pathogenic variant in the gene encoding the 21-hydroxylase enzyme (CYP21A2). This causes a reduction in aldosterone and cortisol but an increased production of testosterone, as the aldosterone and cortisol metabolites are pushed down this branch of the pathway. […] 75% of children with classical CAH have a salt wasting (SW) form. Inadequate aldosterone production results in insufficient sodium reabsorption from the distal renal tubules. Initially children present with failure to thrive, poor feeding, vomiting, dehydration, hypotension, hypoglycaemia, hyperkalaemia, and hyponatraemia. If untreated, children will progress to a life-threatening adrenal crisis with hyperkalaemic metabolic acidosis.

• #11 Congenital adrenal hyperplasia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/congenital-adrenal-hyperplasia

  Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. Symptoms will vary, depending on the type of CAH someone has and their age when the disorder is diagnosed. Females with classic CAH often have ambiguous genitalia at birth and may be diagnosed before symptoms appear. Males have typical male genitalia at birth, even if they have a more severe form. In children classic, salt-wasting CAH, several adrenal symptoms often develop within 2 or 3 weeks after birth. They may include: Poor feeding or vomiting, Diarrhea, Dehydration, Electrolyte changes (abnormal levels of sodium and potassium in the blood), Abnormal heart rhythm, Low blood glucose, Too much acid in the blood (metabolic acidosis), Weight loss, Shock. Females with nonclassic CAH will usually have normal female reproductive organs (ovaries, uterus, and fallopian tubes). They may also have the following changes: Abnormal menstrual periods or failure to menstruate, Early appearance of pubic or armpit hair, Severe acne, Excessive hair growth or facial hair, Some enlargement of the clitoris. Males with nonclassic CAH often appear normal at birth. However, they may appear to enter puberty early. Symptoms may include: Deepening voice, Severe acne, Early appearance of pubic or armpit hair, Enlarged penis but normal testes, Well-developed muscles. Both males and females will grow rapidly during childhood, but be much shorter than normal as adults. Most people with this disorder must take medicine their entire life. They most often have good health. However, they may be shorter than normal adults, even with treatment. In some cases, CAH can affect fertility. Adrenal crisis is a serious complication of classic CAH.

• #12 Congenital adrenal hyperplasia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000411.htm

  Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. […] Most people with congenital adrenal hyperplasia (CAH) lack an enzyme called 21-hydroxylase. The adrenal glands need this enzyme to make enough cortisol and aldosterone. Because of low cortisol levels, the body stimulates the adrenal gland, which then produces more androgen. This results in an imbalance of these hormones. […] Classic CAH is rarer and more serious. It is often found at birth or early infancy. The body makes too little aldosterone and cortisol and too much androgen. […] In children classic, salt-wasting CAH, several adrenal symptoms often develop within 2 or 3 weeks after birth. They may include: Poor feeding or vomiting, Diarrhea, Dehydration, Electrolyte changes (abnormal levels of sodium and potassium in the blood), Abnormal heart rhythm, Low blood glucose, Too much acid in the blood (metabolic acidosis), Weight loss, Shock.

• #13 Congenital Adrenal Hyperplasia | SJPP

  https://www.sjpp.org/endocrinology-and-diabetes/types-of-care/adrenal-conditions/congenital-adrenal-hyperplasia/

  Other signs of classic CAH in children and adults include: Short height in boys and girls, Appearance of pubic hair at a very early age, Early puberty in boys and girls, Rapid growth during childhood, but shorter than average height at maturity. […] Low cortisol levels may cause an adrenal crisis in those with classic CAH. An adrenal crisis is a life-threatening emergency that can cause symptoms that may include: Shock, Diarrhea, Vomiting, Dehydration, Low blood sugar levels. […] There are often no symptoms of non-classic CAH when a baby is born, making it more challenging to diagnose in infants. Routine infant blood screenings do not identify the condition, and it usually does not become evident until late childhood or early adulthood. With non-classic CAH, cortisol is frequently the only hormone that is deficient.

• #14 Congenital Adrenal Hyperplasia (CAH) | State Public Health Laboratory | Health & Senior Services

  https://health.mo.gov/lab/cah.php

  The simple virilizing form of CAH is seen in approximately 25% of those with 21-hydroxylase deficiency. Simple Virilizing CAH have normal aldosterone secretion and present with excessive prenatal production of androgens in affected females resulting in masculinization of the reproductive tract to a point that the sex of the newborn is not clear („ambiguous genitalia”) or appears male-like. Affected males are usually normal at birth. The diagnosis in boys may not be evident until childhood. Late diagnosis is associated with markedly advanced skeletal maturation and accelerated linear growth initially, but early natural puberty and ultimately short stature. […] Still milder forms of 21-hydroxylase deficiency are referred to as non-classical CAH and can cause androgen or masculinization and infertility in adolescent and adult women. The newborn screening test usually does not detect attenuated or late onset non-classical CAH patients.

• #15 Congenital Adrenal Hyperplasia | Causes, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/c/congenital-adrenal-hyperplasia

  Congenital Adrenal Hyperplasia (CAH) is a condition of the adrenal glands that people are born with. The adrenal glands make three different types of hormones: cortisol, aldosterone and androgens. CAH results when the adrenal glands cannot make one or more of these hormones. Most commonly, the adrenal glands cannot make enough cortisol and aldosterone and make too much androgen. CAH can be masculinizing, feminizing, salt-wasting or non-salt-wasting. […] In children and adults with CAH, the extra male hormones may cause the following symptoms: rapid growth, advanced bone age (their bones mature too fast), short height as adults, early appearance of and / or excess acne and body hair, difficulties with periods or getting pregnant. […] Some people have a more severe form of CAH. This happens when the enzyme is missing or not working at all. People with this form of CAH make very low or no cortisol and aldosterone. This can cause an adrenal crisis. This can occur at any age. It is very serious, and can be life threatening.

• #16 Congenital adrenal hyperplasia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-adrenal-hyperplasia?content_id=CON-20228117

  Altered growth. Children may grow fast. And their bones could be more developed than is typical for their age. Final height may be shorter than average. […] Fertility issues. These can include irregular menstrual periods or not having periods at all. Some women with classic CAH may have trouble becoming pregnant. Fertility issues sometimes can occur in men. […] Often, there are no symptoms of nonclassic CAH when a baby is born. Some people with nonclassic CAH never have symptoms. The condition is not found on routine infant blood screening tests. If symptoms occur, they usually appear in late childhood or early adulthood. […] Females who have nonclassic CAH may have genitals that look typical at birth. Later in life, they may have: Irregular menstrual periods, or none at all. Trouble getting pregnant. Features such as facial hair, more body hair than usual and a deeper voice.

• #16 Congenital adrenal hyperplasia | Beacon Health System

  https://www.beaconhealthsystem.org/library/diseases-and-conditions/congenital-adrenal-hyperplasia?content_id=CON-20228117

  Nonclassic CAH symptoms in children of either birth sex also can include: Symptoms of early puberty, such as growth of pubic hair sooner than usual. Serious acne. Rapid growth during childhood with bones that are more developed than is typical. Shorter than expected final height. […] Most often, classic CAH is found at birth through routine newborn screening tests. Or it’s found when a baby’s outer genitals do not look typical. CAH also may be detected when infants show symptoms of serious illness due to low levels of cortisol, aldosterone or both. […] In children who have nonclassic CAH, symptoms of early puberty may appear. If you have concerns about your child’s growth or development, schedule a checkup with your child’s healthcare professional.

• #17 Congenital Adrenal Hyperplasia: Not Really a Zebra | AAFP

  https://www.aafp.org/pubs/afp/issues/1999/0301/p1190.html

  The classic form of congenital adrenal hyperplasia occurs when cortisol synthesis is extremely low. The disorder usually manifests in childhood. Hypersecretion of adrenal androgens causes masculinization of the external genitalia of the female fetus. Affected infants can have ambiguous genitalia or even erroneous gender assignment. […] Children with classic congenital adrenal hyperplasia may lack sufficient amounts of cortisol to mount a stress response, and they frequently succumb to minor illnesses. Those who survive to adulthood experience premature puberty. Premature closure of the epiphyses results in short stature even though these children grow at an accelerated rate when young. Severe acne is also a frequent problem. Adult women with classic congenital adrenal hyperplasia may have pronounced hirsutism and amenorrhea.

• #18 21-hydroxylase deficiency: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency/

  21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. […] Males and females with either classic form of 21-hydroxylase deficiency tend to have an early growth spurt, but their final adult height is usually shorter than others in their family. Additionally, affected individuals may have a reduced ability to have biological children (decreased fertility). Females may also develop excessive body hair growth (hirsutism), male pattern baldness, and irregular menstruation. […] Approximately 75 percent of individuals with classic 21-hydroxylase deficiency have the salt-wasting type. Hormone production is extremely low in this form of the disorder. Affected individuals lose large amounts of sodium in their urine, which can be life-threatening in early infancy. Babies with the salt-wasting type can experience poor feeding, weight loss, dehydration, and vomiting. Individuals with the simple virilizing form do not experience salt loss.

• #19 Congenital Adrenal Hyperplasia (CAH): Causes and Symptoms

  https://www.massgeneral.org/children/congenital-adrenal-hyperplasia

  Symptoms of CAH depend on your childs age: […] Newborn babies may have a life-threatening condition called adrenal crisis. Adrenal crisis can have the following symptoms: Vomiting, Severe dehydration, Low blood pressure, Low blood sugar, Shock, Abnormal sodium and potassium levels. In females, the genitals might look more like male genitals. In males, the genitals may look darker than expected. In a less severe form (simple virilizing CAH), genital findings are present without salt (sodium and potassium) abnormalities. […] When CAH is diagnosed later in life, it is usually a milder form of the condition. This is called Non-classic (late onset) CAH. You might notice the following signs: Body odor, armpit hair or pubic hair before age 8 (in girls) or age 9 (in boys), Early growth spurt, Early puberty.

• #20 Congenital Adrenal Hyperplasia | Doctor

  https://patient.info/doctor/congenital-adrenal-hyperplasia-pro

  Boys with the salt-losing form typically present at 7-14 days of life with vomiting, weight loss, lethargy, dehydration, hyponatraemia and hyperkalaemia and can present in shock. […] Boys with the non-salt-losing form present with early virilisation at age 2-4 years. […] Patients with the non-classic CAH present with hyperandrogenism in later childhood or in early adulthood. These patients can present with early pubarche, or as young women with infertility, hirsutism, oligomenorrhoea or amenorrhoea with polycystic ovaries and acne. Some women with non-classic CAH have no apparent clinical symptoms and many men with non-classic CAH remain free of symptoms. […] Carriers usually have no symptoms or signs of excess androgens and do not need treatment.

• #21 Congenital Adrenal Hyperplasia Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/919218-treatment

  Short stature is a frequent complication of virilizing forms of congenital adrenal hyperplasia. In general, patients have final heights 1-2 standard deviations below their estimated genetic potential. […] This difference results from exposure to excessive concentrations of adrenal androgens that cause rapid skeletal maturation or from excessive exposure to glucocorticoids that limit growth. Early central puberty is often observed in children with advanced skeletal maturation and can contribute to the limitation in growth. […] Growth hormone in combination with GnRH agonist therapy may improve adult height. […] Female patients with virilizing forms of adrenal hyperplasia have a decreased fertility rate. […] Males with uncontrolled congenital adrenal hyperplasia may develop masses in the testes (adrenal rests or adrenal tissue) because the gonads and adrenal glands are derived from the same embryologic anlage.

• #22 Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/congenital-adrenal-hyperplasia-caused-by-21-hydroxylase-deficiency

  In affected females, especially those with the salt-wasting form, reproductive function may be impaired as they reach adulthood; they may have labial fusion and anovulatory cycles or amenorrhea. Some males with the salt-wasting form are fertile as adults, but others may develop testicular adrenal rest tumors, Leydig cell dysfunction, decreased testosterone, and impaired spermatogenesis. Most affected males with the nonsalt-wasting form, even if untreated, are fertile, but in some, spermatogenesis is impaired.

• #23 Congenital Adrenal Hyperplasia Symptoms by Subtype

  https://www.verywellhealth.com/congenital-adrenal-hyperplasia-symptoms-8662859

  In Classic CAH, the short-term effects of untreated disease can cause serious symptoms that can include: Weight loss, Vomiting, Dehydration, Diarrhea, Shock, Heart rhythm problems, Life-threatening conditions including coma or death. […] Living with CAH presents long-term health issues in both men and women. These effects may be due to the disease or the steroid treatments used to manage the disease. While the impact can vary by individual and research is ongoing, studies indicate that long-term effects of CAH can include: Shorter adult stature, Elevated risk of cardiovascular disease, High body mass index (BMI), Increased risk of hypertension (high blood pressure), Decreased bone mineral density, Increased risk of psychiatric diseases including depression, alcohol misuse, and suicide, Increased frequency of autoimmune disorders, especially autoimmune thyroid disease, Adrenal tumors, Increased risk of death due to adrenal crisis, Reduced fertility, Impaired cognition and brain structure.

• #24 Congenital adrenal hyperplasia – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/699

  Classical CAH requires lifelong treatment with glucocorticoid replacement therapy and non-classical CAH requires treatment only in select symptomatic patients. […] The severe or 'classical’ form of the disease usually presents in infancy, is associated with cortisol deficiency, and in most cases, with additional aldosterone deficiency, and severe adrenal hyperandrogenism. Non-classical CAH represents a mild phenotype that may present later in life with signs of mild androgen excess. […] Key diagnostic factors include weight loss, failure to thrive, vomiting, hypotension, atypical genitalia, and hyperpigmentation. Other diagnostic factors include short stature, precocious puberty, irregular menses, infertility, male-pattern baldness (females), polycystic ovaries, hirsutism, and acne.

• #25 Congenital adrenal hyperplasia – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/699

  Classical CAH requires lifelong treatment with glucocorticoid replacement therapy and nonclassical CAH requires treatment only in select symptomatic patients. […] The severe or classical form of the disease usually presents in infancy, is associated with cortisol deficiency, and in most cases, with additional aldosterone deficiency, and severe adrenal hyperandrogenism. Nonclassical CAH represents a mild phenotype that may present later in life with signs of mild androgen excess. […] Key diagnostic factors include weight loss, failure to thrive, vomiting, hypotension, atypical genitalia, and hyperpigmentation. Other diagnostic factors include short stature, precocious puberty, irregular menses, infertility, male-pattern baldness (females), polycystic ovaries, hirsutism, and acne.

• #26 Congenital Adrenal Hyperplasia | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/congenital-adrenal-hyperplasia

  Treatment of CAH can be challenging. Excessive treatment with glucocorticoids can lead to stunted growth, excessive weight gain and other long-term problems such as osteoporosis. […] On the other hand, under treatment usually results in elevated androgen levels. As a result, children may experience early puberty and a short window for growth with short adult height. […] With proper treatment, children with congenital adrenal hyperplasia can live normal lives and participate fully in school and other activities. Girls with CAH may also grow and develop normally, have regular menstrual cycles and have children.

• #27 Congenital Adrenal Hyperplasia (CAH): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/17817-congenital-adrenal-hyperplasia

  Classic CAH causes high levels of androgens in your body. Elevated androgen levels may lead to symptoms related to your sex hormones. In both salt-wasting and non-salt wasting CAH, these symptoms may include: […] Nonclassic CAH is the mildest form of CAH. It usually doesn’t show up until later in childhood, adolescence or adulthood. You may or may not see symptoms. The overproduction of androgens may cause symptoms related to sexual development. […] Classic CAH causes you to lose too much water and salt in your urine. You’re at risk for serious complications, including imbalances of electrolytes like potassium. Left untreated, these imbalances can lead to: […] With early detection and medication, you can lead a healthy, productive life with CAH. If you have classic CAH, you’ll need to take your medications daily for life. If you stop taking your medications, your symptoms will return.

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