Wczesna lub opóźniona dojrzewanie
Diagnostyka i diagnoza

Zaburzenia dojrzewania płciowego, definiowane jako przedwczesne (cechy płciowe przed 8. r.ż. u dziewcząt i 9. r.ż. u chłopców) lub opóźnione (brak rozwoju piersi do 13. r.ż. lub miesiączki do 16. r.ż. u dziewcząt, brak wzrostu jąder ≥4 ml lub ≥2,5 cm do 14. r.ż. u chłopców), wymagają kompleksowej diagnostyki obejmującej szczegółowy wywiad rodzinny, badanie fizykalne z oceną stadiów Tannera, pomiar objętości jąder orchidometrem Pradera oraz ocenę wieku kostnego na podstawie RTG lewej ręki i nadgarstka. Kluczowe są badania hormonalne: stężenia FSH, LH, testosteronu, estradiolu, prolaktyny, TSH, fT4 oraz markerów biochemicznych i stanu zapalnego. Test stymulacji GnRH pozwala różnicować typy przedwczesnego dojrzewania (centralne GnRH-zależne vs. obwodowe GnRH-niezależne) oraz rozróżnić konstytucjonalne opóźnienie wzrastania i dojrzewania (CDGP) od hipogonadyzmu. Diagnostyka obrazowa (MRI podwzgórzowo-przysadkowa, USG miednicy i moszny) oraz badania genetyczne (kariotyp, mikrodelecje chromosomu Y, mutacje genów osi podwzgórze-przysadka-gonady) są niezbędne w wykrywaniu przyczyn strukturalnych i genetycznych.

Diagnostyka wczesnej lub opóźnionej dojrzewanie

Zaburzenia dojrzewania płciowego mogą istotnie wpływać na rozwój fizyczny i psychospołeczny pacjentów. Prawidłowa i szybka diagnostyka jest kluczowa dla wdrożenia odpowiedniego leczenia i zapewnienia optymalnych wyników zdrowotnych. W niniejszym artykule omówiono szczegółowo diagnostykę wczesnego i opóźnionego dojrzewania płciowego12.

Definicje i kryteria diagnostyczne

Przedwczesne dojrzewanie płciowe definiowane jest jako rozwój cech płciowych przed 8. rokiem życia u dziewcząt i przed 9. rokiem życia u chłopców. Z kolei opóźnione dojrzewanie płciowe stwierdza się, gdy u dziewcząt brak rozwoju piersi do 13. roku życia lub brak miesiączki do 16. roku życia, a u chłopców brak wzrostu jąder (do objętości przynajmniej 4 ml lub długości 2,5 cm) do 14. roku życia13.

Diagnostykę opóźnionego dojrzewania płciowego należy również rozważyć w przypadku zatrzymania lub regresji procesu dojrzewania. Przedwczesne lub opóźnione dojrzewanie może być objawem istotnych schorzeń wymagających leczenia45.

Wywiad i badanie fizykalne

Pierwszym i najważniejszym etapem diagnostyki zaburzeń dojrzewania jest dokładny wywiad medyczny i badanie fizykalne67. Podczas wywiadu należy uwzględnić:

  • Szczegółowy wywiad rodzinny, w tym wiek rozpoczęcia dojrzewania płciowego u rodziców i rodzeństwa
  • Dotychczasowy wzrost i rozwój pacjenta
  • Obecność chorób przewlekłych, wcześniejszych operacji, urazów głowy
  • Stosowane leki
  • Stan odżywienia i aktywność fizyczną
  • Objawy neurologiczne
  • Stresory psychologiczne i emocjonalne78

Badanie fizykalne powinno obejmować910:

  • Ocenę parametrów wzrostu i masy ciała w odniesieniu do siatek centylowych
  • Ocenę stadiów rozwoju według skali Tannera (rozwój piersi u dziewcząt, narządów płciowych u chłopców, owłosienia łonowego u obu płci)
  • Pomiar objętości jąder u chłopców (przy użyciu orchidometru Pradera)
  • Badanie piersi u dziewcząt
  • Ocenę proporcji ciała
  • Poszukiwanie cech dysmorficznych mogących sugerować zespoły genetyczne
  • Ocenę węchu (przy podejrzeniu zespołu Kallmana)11

Badania laboratoryjne

W diagnostyce zaburzeń dojrzewania płciowego kluczową rolę odgrywają badania laboratoryjne, które pomagają ustalić etiologię zaburzeń12. Podstawowe badania laboratoryjne obejmują413:

W przypadku przedwczesnego dojrzewania płciowego wskazane może być również oznaczenie1516:

  • 17-hydroksyprogesteronu (w kierunku wrodzonego przerostu nadnerczy)
  • Dehydroepiandrosteronu (DHEA) i jego siarczanu (DHEA-S)
  • βhCG (wykluczenie nowotworów wydzielających gonadotropinę kosmówkową)

Testy stymulacyjne

Ważnym elementem diagnostyki różnicowej jest test stymulacji GnRH (gonadoliberyny), który pomaga zidentyfikować typ zaburzenia dojrzewania płciowego126:

  • W przedwczesnym dojrzewaniu typu centralnego (GnRH-zależnego) obserwuje się wzrost stężenia LH i FSH po podaniu GnRH
  • W przedwczesnym dojrzewaniu typu obwodowego (GnRH-niezależnego) poziomy gonadotropin pozostają niezmienione
  • W opóźnionym dojrzewaniu test może pomóc różnicować między konstytucjonalnym opóźnieniem a hipogonadyzmem1718

W niektórych przypadkach może być wskazany również test stymulacji ACTH (adrenokortykotropiny) w celu oceny funkcji nadnerczy17.

Badania obrazowe

Ocena wieku kostnego

Badaniem o fundamentalnym znaczeniu w diagnostyce zaburzeń dojrzewania jest ocena wieku kostnego na podstawie zdjęcia RTG lewej ręki i nadgarstka125:

  • W przedwczesnym dojrzewaniu płciowym wiek kostny jest zwykle przyspieszony w stosunku do wieku chronologicznego
  • W opóźnionym dojrzewaniu wiek kostny jest opóźniony w stosunku do wieku chronologicznego19

Ocena wieku kostnego pozwala na prognozowanie potencjału wzrostowego, przewidywanie ostatecznego wzrostu oraz monitorowanie efektów leczenia2021.

Badania obrazowe OUN

U pacjentów z zaburzeniami dojrzewania płciowego, zwłaszcza typu centralnego, często wykonuje się badanie MRI mózgowia z oceną okolicy podwzgórzowo-przysadkowej622:

  • W przedwczesnym dojrzewaniu typu centralnego MRI może ujawnić guzy, hamartoma, malformacje lub inne zmiany w obszarze podwzgórzowo-przysadkowym
  • W opóźnionym dojrzewaniu MRI pomaga wykluczyć zmiany strukturalne w przysadce, które mogą być przyczyną niedoboru gonadotropin223

Badania USG

USG miednicy małej u dziewcząt oraz jąder u chłopców stanowi ważne narzędzie diagnostyczne612:

  • U dziewcząt z przedwczesnym dojrzewaniem USG miednicy małej pomaga ocenić wielkość macicy i jajników oraz wykryć torbiele lub guzy jajników
  • U dziewcząt z opóźnionym dojrzewaniem USG może pomóc w diagnostyce pierwotnej niewydolności jajników lub zaburzeń strukturalnych układu rozrodczego20
  • U chłopców USG moszny może być pomocne w ocenie objętości jąder i wykrywaniu nieprawidłowości strukturalnych24

Diagnostyka genetyczna

Badania genetyczne odgrywają istotną rolę w diagnostyce zaburzeń dojrzewania, szczególnie w przypadkach, gdy podejrzewa się genetyczne podłoże zaburzeń625:

  • Kariotyp – szczególnie u dziewcząt z opóźnionym dojrzewaniem i niskim wzrostem (podejrzenie zespołu Turnera) oraz u chłopców z hipogonadyzmem (podejrzenie zespołu Klinefeltera)
  • Badanie mikrodelecji chromosomu Y u chłopców z pierwotnym hipogonadyzmem
  • Badania molekularne w kierunku mutacji genów związanych z regulacją osi podwzgórze-przysadka-gonady26

Nowsze techniki diagnostyczne, takie jak sekwencjonowanie eksomowe, umożliwiają identyfikację rzadszych mutacji genetycznych związanych z zaburzeniami dojrzewania27.

Diagnostyka różnicowa

Przedwczesne dojrzewanie płciowe

W przypadku przedwczesnego dojrzewania płciowego kluczowe jest różnicowanie między1528:

  • Przedwczesnym dojrzewaniem typu centralnego (GnRH-zależnego) – spowodowanym przedwczesną aktywacją osi podwzgórze-przysadka-gonady
  • Przedwczesnym dojrzewaniem typu obwodowego (GnRH-niezależnego) – spowodowanym autonomicznym wydzielaniem hormonów płciowych, np. przez guzy jajników, jąder lub nadnerczy
  • Izolowanym przedwczesnym rozwojem piersi (thelarche) lub owłosienia łonowego (pubarche) – zwykle łagodnymi wariantami rozwoju29

Różnicowanie tych stanów opiera się na ocenie klinicznej, badaniach hormonalnych i obrazowych30.

Opóźnione dojrzewanie płciowe

W diagnostyce różnicowej opóźnionego dojrzewania płciowego należy uwzględnić3132:

  • Konstytucjonalne opóźnienie wzrastania i dojrzewania (CDGP) – najczęstsza przyczyna, uwarunkowana genetycznie, z typowym wywiadem rodzinnym
  • Funkcjonalny hipogonadyzm hipogonadotropowy – wtórny do chorób przewlekłych, zaburzeń odżywiania, intensywnego wysiłku fizycznego lub stresu
  • Trwały hipogonadyzm hipogonadotropowy – spowodowany wrodzonymi lub nabytymi zaburzeniami osi podwzgórze-przysadka
  • Hipogonadyzm hipergonadotropowy – spowodowany pierwotną niewydolnością gonad33

Szczególne wyzwania diagnostyczne

Rozróżnienie między konstytucjonalnym opóźnieniem wzrastania i dojrzewania (CDGP) a trwałym hipogonadyzmem hipogonadotropowym stanowi jedno z największych wyzwań diagnostycznych3234:

  • Oba stany charakteryzują się podobnym obrazem klinicznym i profilem hormonalnym (niskie stężenia gonadotropin i hormonów płciowych)
  • Oznaczenie inhibiny B i hormonu anty-Müllerowskiego (AMH) może być pomocne w różnicowaniu
  • W niektórych przypadkach ostateczne rozpoznanie może być ustalone dopiero po dłuższej obserwacji

Nowsze podejścia diagnostyczne, w tym zastosowanie uczenia maszynowego i oceny genetycznej, mogą poprawić dokładność diagnostyczną i pomóc w zarządzaniu pacjentami z opóźnionym dojrzewaniem płciowym18.

Wskazania do konsultacji specjalistycznej

Pacjenci z zaburzeniami dojrzewania płciowego powinni być konsultowani przez specjalistów endokrynologii dziecięcej w następujących sytuacjach3531:

  • Potwierdzenie przedwczesnego lub opóźnionego dojrzewania na podstawie kryteriów wiekowych
  • Zatrzymanie lub regresja procesu dojrzewania
  • Niezgodność między rozwojem cech płciowych wtórnych a wzrostem
  • Obecność objawów neurologicznych, dysmorfii lub innych cech sugerujących chorobę układową
  • Znaczny niepokój psychospołeczny związany z zaburzeniami dojrzewania36

Aspekty psychospołeczne

Zaburzenia dojrzewania płciowego mogą mieć istotny wpływ na dobrostan psychospołeczny dzieci i młodzieży437:

  • Przedwczesne dojrzewanie może prowadzić do trudności w akceptacji zmian ciała, nieadekwatnych zachowań seksualnych i problemów emocjonalnych
  • Opóźnione dojrzewanie często wiąże się z obniżoną samooceną, trudnościami w relacjach rówieśniczych i stresem psychicznym38

Ocena psychologiczna i wsparcie powinny być integralnymi elementami kompleksowej opieki nad pacjentami z zaburzeniami dojrzewania płciowego39.

Wnioski

Diagnostyka wczesnego lub opóźnionego dojrzewania płciowego wymaga kompleksowego podejścia, obejmującego dokładny wywiad, badanie fizykalne oraz odpowiednio dobrane badania laboratoryjne i obrazowe39. Wczesne rozpoznanie i prawidłowa diagnostyka różnicowa umożliwiają wdrożenie odpowiedniego leczenia, co może zapobiec potencjalnym powikłaniom zdrowotnym i psychospołecznym40.

Należy pamiętać, że u znacznej części pacjentów z zaburzeniami dojrzewania płciowego, szczególnie w przypadku konstytucjonalnego opóźnienia, obserwuje się spontaniczne rozpoczęcie lub progresję dojrzewania. Jednak u pacjentów z patologicznym podłożem zaburzeń dojrzewania wczesna interwencja jest kluczowa dla osiągnięcia optymalnych wyników leczenia41.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Disorders of Puberty: An Approach to Diagnosis and Management | AAFP
    https://www.aafp.org/pubs/afp/issues/2017/1101/p590.html
    Disorders of puberty can profoundly impact physical and psychosocial well-being. Precocious puberty is pubertal onset before eight years of age in girls and before nine years of age in boys. Patients with early isolated pubertal changes, prepubertal linear growth, and no worrisome neurologic symptoms typically have a benign pattern of development and should be monitored in the appropriate clinical context. […] Delayed puberty is the absence of breast development in girls by 13 years of age and absence of testicular growth to at least 4 mL in volume or 2.5 cm in length in boys by 14 years of age. […] History and physical examination should be followed by measurements of serum follicle-stimulating hormone, luteinizing hormone, and testosterone (boys) or estradiol (girls); and bone age radiography.
  • #2 Delayed Puberty in Boys: Diagnosis and Treatment
    https://www.massgeneral.org/children/delayed-puberty/boys-diagnosis-treatment
    Boys will typically go through puberty as they grow and develop into young adults. Sometimes boys go through puberty later than we expect. […] Our evaluation of your sons delayed puberty begins with a discussion about your sons signs of puberty and a physical exam. If your son has signs of delayed puberty, we will have him get an X-ray of his left hand and wrist called a bone age. A bone age tells us how much his bones have matured. It can also help us figure out much he has left to grow. […] Your son might have an early morning blood test to help us measure his hormone levels. Hormones, like testosterone, are at their highest levels first thing in the morning. Additional blood testing done at the same time might include FSH, LH, cortisol, ACTH, thyroid hormone studies, growth factors and a prolactin level. We also do genetic evaluations if they are needed. Depending on the results of the laboratory testing further radiology testing may include a head MRI.
  • #3 Delayed Puberty – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/delayed-puberty
    Delayed puberty is absence of sexual maturation at the expected time. Diagnosis is by measurement of gonadal hormones (testosterone and/or estradiol), luteinizing hormone, and follicle-stimulating hormone; imaging studies; and genetic testing. […] The initial evaluation of delayed puberty should consist of a complete history and physical examination to evaluate pubertal development, nutritional status, and growth. Depending on findings, laboratory tests for other causes of slow growth should be considered: […] Although many children seem to be starting puberty earlier than in past years, there are no indications that the criteria for delayed puberty should change. […] In girls, delayed puberty is diagnosed if 1 of the following occurs: No breast development by age 12 to 13 years; 3 years elapsed between the beginning of breast growth and menarche; Menstruation does not occur by age 15 (in the presence of normal secondary sexual characteristics).
  • #4 Disorders of Puberty: An Approach to Diagnosis and Management | AAFP
    https://www.aafp.org/pubs/afp/issues/2017/1101/p590.html
    Boys 14 years and older and girls 13 years and older may benefit from sex steroid treatment to jump-start puberty. […] Girls without breast development by 13 years of age should be evaluated for delayed puberty, and girls without menarche by 15 years of age should be evaluated for primary amenorrhea. […] Boys who do not have testicular growth to at least 4 mL in volume or 2.5 cm in length by 14 years of age should be evaluated for delayed puberty. […] Puberty is considered delayed when there are no signs of breast development by 13 years of age in girls or testicular enlargement by 14 years of age in boys. […] Clinicians should suspect pubertal delay if there is halting or regression of pubertal development. […] The initial workup should include measurements of serum FSH, LH, testosterone in boys or estradiol in girls, and bone age radiography. […] Delayed puberty can cause significant psychological distress and low self-esteem. […] Girls older than 13 years and boys older than 14 years with possible constitutional delay of growth and puberty or gonadotropin-releasing hormone deficiency may be offered jump-start therapy to induce puberty.
  • #5 Early or delayed puberty
    https://www.nhs.uk/conditions/early-or-delayed-puberty/
    Puberty is when a child’s body begins to develop and change as they become an adult. […] In some cases, early puberty or delayed puberty could be a sign of an underlying condition that may need to be treated. […] Your GP may refer you to a specialist if they think there could be an underlying cause that needs to be investigated. […] Tests that may be carried out include a blood test to check hormone levels, a hand X-ray to help determine likely adult height, and an ultrasound or MRI scan to check for problems with glands or organs. […] Delayed puberty can be treated by: treating any underlying cause, using medication for a few months to increase hormone levels and trigger the start of puberty.
  • #6 Diagnosing Disorders of Puberty | NYU Langone Health
    https://nyulangone.org/conditions/disorders-of-puberty/diagnosis
    At Hassenfeld Childrens Hospital at NYU Langone, our endocrinologists diagnose disorders of puberty. […] Problems with the production of these hormones can lead to disorders of puberty, including precocious, or early, puberty and delayed puberty. […] Your childs doctor may recommend one or more tests, the results of which can help to make an accurate diagnosis. […] Your childs doctor may recommend blood testing to measure levels of hormones that affect the start of puberty. […] Your childs doctor may order a GnRH stimulation test to measure how your childs body reacts to changes in hormone levels that affect puberty. […] Your childs doctor may order an MRI to evaluate the brain. […] Girls with puberty disorders may have a pelvic ultrasound to help the doctor evaluate the size of the ovaries and the length of the uterus. […] Your childs doctor may recommend a blood test called karyotyping, which helps doctors identify the number and configuration of chromosomes. […] Your childs doctor may order a bone density test.
  • #7 Delayed Puberty – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK544322/
    Delayed puberty not infrequently occurs in the pediatric population and a common reason for referral to a pediatric endocrinologist. […] This activity reviews the evaluation and management of pubertal delay and highlights the role of interprofessional team members in collaborating to provide well-coordinated care to patients with this condition. […] In females, delayed puberty is the lack of breast development by 13 years, a delay of over 4 years between thelarche and completion of puberty, or a lack of menarche by 16 years. In males, a pubertal delay is evident by a lack of testicular enlargement by 14 years or more than 5 years between testicular enlargement and completion of puberty. […] When patients and their families come with a concern for the pubertal delay, obtaining a good history is essential to a thorough evaluation.
  • #8 Delayed Puberty: Signs, Causes & Treatment Explained – BuzzRx
    https://www.buzzrx.com/blog/delayed-puberty
    Delayed puberty is when a child does not start puberty during the expected age range. […] Delayed puberty signs include a lack of breast development in girls (by age 13) and no menstruation by age 16, as well as the absence of testicular development in boys (by age 14). […] Treatment depends on the cause, ranging from hormone therapy to address hormone deficiencies to nutritional and psychological support. […] A pediatric endocrinologist (a specialist in treating hormonal disorders in children) will obtain a complete medical history and perform a physical exam to look for secondary sexual characteristics (signs of puberty) such as breast growth, testicular enlargement, pubic hair, axillary hair, body odor, and acne. They will also order certain tests before making a diagnosis of delayed puberty.
  • #9 Delayed puberty – Wikipedia
    https://en.wikipedia.org/wiki/Delayed_puberty
    Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents. […] Initial workup for delayed puberty not due to a chronic condition involves measuring serum FSH, LH, testosterone/estradiol, as well as bone age radiography. […] Pediatric endocrinologists are the physicians with the most training and experience in evaluating delayed puberty. A complete medical history, review of systems, growth pattern, and physical examination, as well as laboratory testing and imaging, will reveal most of the systemic diseases and conditions capable of arresting development or delaying puberty, as well as providing clues to some of the recognizable syndromes affecting the reproductive system.
  • #10 Puberty Disorders | Endocrinology Consultants | Englewood, NJ
    https://www.endocrinewellness.com/puberty-disorders/
    Disorders of puberty may occur when there is a problem with the glands responsible for releasing the hormones responsible for puberty, such as the pituitary gland and hypothalamus, or when there is a problem with the reproductive organs themselves. […] The evaluation of puberty disorders in adolescents may require blood testing, imaging studies, and sometimes genetic testing to identify the underlying cause and determine the proper treatment plan. […] Blood tests determine the presence of puberty hormones. A pelvic/scrotal ultrasound or MRI brain may be required to evaluate cause of the precocious puberty. In some cases, when the blood tests are not conclusive, a 3-hour Leuprolide stimulation test may be required to make the diagnosis. […] How is Delayed Puberty Diagnosed? […] Physical Exam
  • #11 Delayed puberty | Endocrine Conditions
    https://www.yourhormones.info/endocrine-conditions/delayed-puberty/
    Delayed puberty is defined as no secondary sexual maturation or any sign of puberty by the age of 13 years in girls and 14 years in boys. […] Delayed puberty is diagnosed when there is no breast development in girls by the age of 13 or growth of testes in boys by the age of 14. […] Diagnosing delayed puberty is relatively straightforward because a physical examination will reveal whether puberty is occurring or not. […] Pubertal staging is key to diagnosis: There are five stages of puberty defined by the degree of breast development, pubic and underarm hair growth, and the size of the testes and length of the penis. […] The exact cause of the delayed puberty is more difficult to diagnose. […] A thorough medical history is essential to find out any details of chronic illness, surgery, radiation, mumps, testicular torsion and other factors that may result in delayed puberty.
  • #12 Precocious puberty – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/precocious-puberty/diagnosis-treatment/drc-20351817
    Diagnosing precocious puberty involves: […] Running blood tests to measure hormone levels. […] X-rays of children’s hands and wrists also are helpful in diagnosing precocious puberty. These X-rays can show if the bones are growing too quickly. […] A test called a gonadotropin-releasing hormone (GnRH) stimulation test helps identify the type of precocious puberty. […] Children with peripheral precocious puberty need more testing to find the cause of their condition. This might include more blood tests to check hormone levels or, in girls, an ultrasound to check for an ovarian cyst or tumor. […] What tests does my child need?
  • #13 Delayed puberty – Symptoms, diagnosis and treatment | BMJ Best Practice US
    https://bestpractice.bmj.com/topics/en-us/1126
    Key diagnostic factors include boys: testes 4 mL, girls: absent breast development, absent pubic/axillary hair, absence of menarche 3 years from breast budding, absent growth spurt, and anosmia. […] 1st tests to order include Tanner staging, measurement of testicular size, nondominant wrist x-ray, and basal follicle-stimulating hormone (FSH) and luteinizing hormone (LH). […] Tests to consider include luteinizing hormone-releasing hormone stimulation test (LHRH), inhibin B, anti-Mullerian hormone (AMH), human chorionic gonadotropin (hCG) stimulation test, MRI brain, karyotype, ultrasound pelvis and abdomen, echocardiogram, serum ovarian autoantibodies, assessment of olfaction, thyroid function tests, serum prolactin, and other pituitary hormone investigations.
  • #14 Delayed puberty – Symptoms, diagnosis and treatment | BMJ Best Practice
    https://bestpractice.bmj.com/topics/en-gb/1126
    Key diagnostic factors include presence of risk factors, boys: testes 4 mL, girls: absent breast development, absent pubic/axillary hair, absence of menarche 3 years from breast budding, absent growth spurt, and anosmia. […] 1st investigations to order include Tanner staging, measurement of testicular size, non-dominant wrist x-ray, and basal follicle-stimulating hormone (FSH) and luteinising hormone (LH). […] Investigations to consider include luteinising hormone-releasing hormone stimulation test (LHRH), inhibin B, anti-Mullerian hormone (AMH), human chorionic gonadotrophin (hCG) stimulation test, MRI brain, karyotype, ultrasound pelvis and abdomen, echocardiogram, serum ovarian autoantibodies, assessment of olfaction, thyroid function tests, serum prolactin, and other pituitary hormone investigations.
  • #15 Precocious Puberty Workup: Approach Considerations, Laboratory Studies, Imaging Studies
    https://emedicine.medscape.com/article/924002-workup
    If the history, physical examination, and laboratory data suggest that a child exhibits early and sustained pubertal maturation, the clinician must differentiate CPP from precocious pseudopuberty. In CPP, which is gonadotropin-dependent, early maturation of the entire hypothalamic-pituitary-gonadal (HPG) axis occurs, with the full spectrum of physical and hormonal changes of puberty. Precocious pseudopuberty is much less common and refers to conditions in which increased production of sex steroids is gonadotropin-independent. […] Correct diagnosis of the etiology of sexual precocity is critical because the evaluation and treatment of patients with precocious pseudopuberty are quite different from those of patients with CPP. […] Measurement of serum testosterone is useful in boys with suspected precocious puberty.
  • #16 Precocious Puberty Workup: Approach Considerations, Laboratory Studies, Imaging Studies
    https://emedicine.medscape.com/article/924002-workup
    For girls, estradiol measurements are less reliable indicators of the stage of puberty. […] Consider obtaining a 17-hydroxyprogesterone (17-OH progesterone) serum study if mild, or nonclassic, congenital adrenal hyperplasia is suspected. […] Because of the development of more sensitive third-generation assays for LH, which can detect levels as low as 0.1 IU/L or below, random LH is now considered a good screening test for CPP, with levels of 0.3 IU/L or above considered diagnostic. […] A definitive diagnosis of CPP may be confirmed by measuring LH and FSH levels 30-60 minutes after stimulation with GnRH at 100 mcg or with a GnRH analogue. […] Thyroid tests are not a routine requirement in the evaluation of precocious puberty. […] If CPP is caused by a tumor in the hypothalamic-pituitary area, the histology of the tumor can be important to the patient’s prognosis.
  • #17 Addressing Disorders of Puberty in Girls – Advances in Pediatric Endocrinology | NewYork-Presbyterian
    https://www.nyp.org/advances-pediatrics/addressing-disorders-of-puberty-in-girls
    While symptoms can help to diagnose the specific pubertal disorder, a thorough assessment of the patients family history is important in identifying genetic causes. Additionally, a GnRH stimulation test or an adrenocorticotropic hormone (ACTH) stimulation test can evaluate hormonal imbalances. Imaging tests, such as X-ray, MRI, CT, or pelvic ultrasounds, are used to identify skeletal maturation, central nervous system lesions, or abnormal growths. […] When assessing delayed puberty, patients with a short stature or virilization should undergo karyotyping and monitoring of hormone concentrations. Imaging tests are helpful in identifying delays in skeletal development and a brain MRI can identify potential hypothalamus or pituitary abnormalities. Treatment options include estrogen replacement therapy (ERT).
  • #18 Delayed puberty: unraveling the different trajectories and contributions of AI | ESPE2022 | 60th Annual ESPE (ESPE 2022) | ESPE Abstracts
    https://abstracts.eurospe.org/hrp/0095/hrp0095fc9.4
    At presentation, Inhibin B62 pg/ml, as well as the association of a history of cryptorchidism with either testicular volume 3ml or LH 0.8U/l exhibited a 100% sensitivity and specificity for complete CHH. However, none of the clinical and hormonal markers allowed to differentiate CDGP from partial CHH. […] Partial CHH is more common than previously thought among DP. Distinction between CDGP and partial CHH is difficult at early adolescence but feasible by age 15.5-16. Machine learning associated with genetic score improves diagnostic accuracy and may be a useful tool in the management of DP patients.
  • #19 Delayed Puberty | Children’s Hospital of Philadelphia
    https://www.chop.edu/conditions-diseases/delayed-puberty
    Puberty is said to be delayed when physical signs do not appear by age 13 for girls or age 14 for boys. […] The symptoms of delayed puberty may look like other problems or medical conditions. Always consult your child’s doctor for a diagnosis. […] In addition to a complete medical history and physical exam, diagnosis of delayed puberty may include: Blood tests. These check for chromosomal abnormalities, measure hormone levels, and test for chronic disorders that may delay puberty (such as diabetes and anemia). […] An X-ray of the hand can estimate your child’s bone age. With delayed puberty, bone age is often delayed relative to the calendar age. […] A diagnostic imaging procedure that uses a combination of X-rays and computer technology to produce horizontal, or axial, images (often called slices) of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general X-rays. […] A diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
  • #20 Delayed Puberty in Girls: Diagnosis and Treatment
    https://www.massgeneral.org/children/delayed-puberty/girls-evaluation-treatment
    Our evaluation of your daughters delayed puberty begins with a discussion about your daughters signs of puberty and a physical exam. If she has signs of delayed puberty, we will have her get an X-ray of her left hand and wrist called a bone age. A bone age tells us how much your daughters bones have matured. It can also help us figure out how much she has left to grow. […] Your child might have an early morning blood test to help us measure your childs hormone levels. Hormones, like estrogen, reach their highest levels first thing in the morning. Additional blood testing done at the same time might include FSH, LH, cortisol, ACTH, thyroid hormone studies, growth factors and a prolactin level. We also do genetic evaluations if they are needed. Depending on the results of the laboratory testing further radiology testing may include a pelvic ultrasound or head MRI.
  • #21 Delayed Puberty/Delayed Sexual Development | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/delayed-puberty-delayed-sexual-development
    Delayed puberty is defined differently for boys and girls: Boys: lack of increase in testicle size by age 14 […] Girls: lack of breast development by age 13. A specialist, such as an endocrinologist, is often able to detect signs that puberty has started, even if it doesn’t look that way to you, your child, or even your child’s pediatrician. […] The first step in treating your child is forming an accurate and complete diagnosis. Your child’s doctor will most likely start by taking the child’s medical history, including questions about the family’s medical history, and performing a physical exam. Other tests might include: bone age examination: a simple X-ray of the left hand and wrist that allows doctors to look at your child’s skeletal development, which changes over time. […] blood tests: to measure hormone levels, including estrogen and testosterone, and screen for underlying disorders if appropriate. […] After all tests are complete, we will meet with you and your family to discuss the results and outline the best treatment options.
  • #22 Constitutional Growth Delay Workup: Laboratory Studies, Imaging Studies
    https://emedicine.medscape.com/article/919677-workup
    A study by Rohayem et al indicated that inhibin B and anti-Mllerian hormone (AMH) are useful in differentiating between boys with prepubertal constitutional delay of growth and puberty and those with hypogonadotropic hypogonadism. […] A retrospective study by Varimo et al suggested that in prepubertal boys, testicular volume, gonadotropin-releasing hormone-induced LH level, and basal inhibin B level are the best markers for differentiating constitutional delay of growth and puberty from congenital hypogonadotropic hypogonadism. […] A radiographic study of the left hand and wrist to assess skeletal maturation is critical in diagnosing constitutional growth delay. Typically, the bone age begins to lag behind chronologic age during early childhood and is delayed in adolescence by an average of 2-4 years. Because the timing of puberty, the pubertal growth spurt, and epiphyseal fusion are dependent on biologic age (skeletal maturation) rather than chronologic age, all of these events are delayed in accordance with bone age. […] MRI of the pituitary gland is indicated if pituitary dysfunction is found upon hormonal evaluation or when physical symptoms (eg, visual changes, severe headaches) are present in the context of growth failure or pubertal delay.
  • #23 Delayed Puberty in Boys: Diagnosis and Treatment
    https://www.massgeneral.org/children/delayed-puberty/boys-diagnosis-treatment
    Delayed puberty does not always have to be treated. We treat if your son is bothered by his lack of pubertal signs. We treat delayed puberty by giving your son injections (shots) of testosterone just under the skin once a month. If he doesnt start showing first signs of puberty after having injections for 6-12 months, then we will consider increasing the dose over time. […] Your son will typically do well if he has delayed puberty, but eventually starts showing signs of puberty on his own. Treatment with short-term testosterone injections will not affect his ability to enter puberty on his own. He will reach a normal adult height, have normal bone strength and show all of the physical signs of puberty. His chances of being fertile enough to have children in the future are also normal. […] If your son has to have long-term testosterone injections, it might affect his chances of being fertile enough to have children in the future. If this happens, we can give special medications that might help when he reaches an appropriate age to have children.
  • #24 Disorders of Puberty | Texas Children’s
    https://www.texaschildrens.org/content/conditions/disorders-puberty
    Puberty is the process a child’s body goes through as it develops into an adult’s body. […] A puberty disorder is when these processes and changes don’t occur as they normally should. […] Diagnosis starts with a detailed medical history and a thorough physical exam, including pelvic and breast exams when necessary. […] Diagnostic testing may include: X-ray of the hand/wrist – to determine bone age, Blood tests – to measure hormone levels and check for chromosomal abnormalities and other conditions, MRI (magnetic resonance imaging) or CT scan – to rule out abnormalities in the brain or pituitary gland, Thyroid testing, Ultrasound – to examine the health of the ovaries and adrenal glands.
  • #25 Delayed Puberty – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/delayed-puberty
    In boys, delayed puberty is diagnosed if 1 of the following occurs: No testicular enlargement by age 13 or 14; 4 years elapsed between initial and complete growth of the genitals. […] LH and FSH are measured, and testosterone in boys or estradiol in girls is measured. […] Elevated serum LH and FSH levels indicate gonadal failure caused by defects of the gonads themselves (primary hypogonadism [hypergonadotropic hypogonadism]). […] In children who have elevated serum LH and FSH levels, karyotype analysis should be done to investigate for Klinefelter syndrome in boys and Turner syndrome in girls. […] If testosterone levels are not higher than the initial value and/or pubertal development does not continue after completion of treatment, a second course of low-dose treatment can be given. […] Hormone therapy may be indicated to induce puberty or as long-term replacement.
  • #26 Revista Española Endocrinología Pediátrica – Molecular advances in the diagnosis of delayed puberty
    https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=433&idlangart=EN&preproduccion=&in_window=1
    The pathogenesis of delayed puberty (DP) encompasses several conditions including functional hypogonadism, most commonly due to self-limited (also known as constitutional) DP, GnRH deficiency leading to hypogonadotropic hypogonadism, and disorders causing primary hypogonadism. […] Self-limited delayed puberty (DP), also known as constitutional delay of growth and puberty (CDGP), represents the commonest cause of DP in both sexes. Up to 83% of boys with pubertal delay have self-limited DP. […] There are three main groups of differential diagnosis of self-limited DP, although up to 30 different etiologies underlying DP have been identified: hypergonadotropic hypogonadism, with primary gonadal failure leading to elevated gonadotropin levels due to lack of negative feedback; functional hypogonadotropic hypogonadism, where late pubertal development is due to maturational delay in the HPG axis secondary to chronic disease, malnourishment, excessive exercise, psychological or emotional stress; and permanent hypogonadotropic hypogonadism, characterized by low LH and FSH levels.
  • #27 Revista Española Endocrinología Pediátrica – Molecular advances in the diagnosis of delayed puberty
    https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=433&idlangart=EN&preproduccion=&in_window=1
    The majority of families display an autosomal dominant pattern of inheritance (with or without complete penetrance). 50 to 75% of subjects with self-limited DP have a family history of delayed pubertal onset. […] More recently, whole exome and targeted resequencing methods have implicated two pathogenic mutations in IGSF10 as the causal factor for late puberty in six unrelated families from a large Finnish cohort with familial DP. […] Clinically it is important to distinguish between the conditions of DP and idiopathic CHH in adolescents presenting with DP. However, this diagnosis is often a difficult one as both disorders can present with a picture of functional hypogonadotropism and can share an underlying pathophysiology. There is still no definitive test to accurately discriminate between the two diagnoses.
  • #28 Precocious Puberty: Symptoms, Types, Treatment, and More
    https://www.healthline.com/health/precocious-puberty
    Precocious puberty, or early onset puberty, means a boy or girl has started to mature sexually too early. […] Read on to learn how to identify this condition and what to do if you suspect your child is experiencing early onset puberty. […] Consult your pediatrician at the first signs of puberty in a child younger than 8 or 9. Even if youre unsure if what youre seeing is a sign of puberty, take your child to the doctor for an evaluation. […] Your pediatrician will review your childs medical history and family medical history. A physical exam will also be necessary. […] A gonadotropin-releasing hormone (Gn-RH) stimulation test and a blood test to check for levels of other hormones, such as testosterone in boys and progesterone in girls, can help confirm a diagnosis of precocious puberty.
  • #29 Definition, etiology, and evaluation of precocious puberty – UpToDate
    https://www.uptodate.com/contents/definition-etiology-and-evaluation-of-precocious-puberty
    Precocious puberty is the onset of pubertal development at an age that is 2 to 2.5 standard deviations (SD) earlier than population norms. The cause of precocious puberty may range from a variant of normal development (eg, isolated premature adrenarche or isolated premature thelarche) to pathologic conditions with significant risk of morbidity and even death (eg, malignant germ-cell tumor or astrocytoma). […] The clinician faced with a child who presents with early development of secondary sexual characteristics should consider the following questions: […] What is causing the early development? – To answer this question, the clinician ascertains whether the development of secondary sexual characteristics is attributable to androgen and/or estrogen effects and whether the source of sex hormone is centrally mediated through the hypothalamic-pituitary-gonadal axis, from an autonomous peripheral origin, or has an exogenous basis. […] Is therapy indicated, and, if so, what therapy?
  • #30 Precocious Puberty: Symptoms, Types, Treatment, and More
    https://www.healthline.com/health/precocious-puberty
    In children with central precocious puberty, Gn-RH will cause other hormone levels to increase. Hormone levels will remain the same in children with peripheral precocious puberty. […] A painless, non-invasive magnetic resonance imaging (MRI) scan may also help reveal problems with the pituitary gland.
  • #31 Delayed Puberty – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK544322/
    A complete physical exam should always be done to deny or support any clinical suspicions. […] If further workup is warranted, a bone age can help determine the child’s current growth status. […] A provider may also choose to add laboratory tests to evaluate a child’s pubertal status. […] After making a diagnosis of CDPG, treatment is usually guided by patient and parental goals. […] Patients diagnosed with permanent hypogonadism, either from primary gonadal failure or permanent lesions in the HPG axis, will require a more prolonged course of sex-steroid therapy. […] When a pubertal delay is concerning, a pediatric endocrinologist should provide a consult for further evaluation and management. […] Patients and families should receive education about what the first signs of puberty consist of in males and females. […] Delayed puberty has repercussions beyond just the secondary sexual characteristics. It affects emotions, mood, behavior, social, and academic performance.
  • #32
    https://link.springer.com/article/10.1007/s12020-021-02626-z
    The differential diagnoses of pubertal delay include hypergonadotropic hypogonadism and congenital hypogonadotropic hypogonadism (CHH), as well as constitutional delay of growth and puberty (CDGP). […] Distinguishing between CDGP and CHH may be challenging, and the scientific community has been struggling to develop diagnostic tests that allow an accurate differential diagnosis. […] Indeed, an adequate and timely management is critical in order to enable optimal clinical and psychosocial outcomes of the different forms of pubertal delays. […] CDGP can be diagnosed only after exclusion of pathologically absent puberty such as hypergonadotropic hypogonadism or CHH. […] However, differentiating between CDGP and CHH can be extremely challenging in adolescence. […] Once systemic pathologies determining functional HH are ruled out on clinical examination, the differential diagnosis between these two conditions is not straightforward.
  • #33 Delayed Puberty | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/20323
    In developing adolescents, psychological causes must also be investigated and frequently correlate with the above conditions mentioned. […] A rarer cause of hypogonadotropic hypogonadism that is congenital is panhypopituitarism. […] In males, a common cause of pubertal delay is a constitutional delay of puberty and growth (CDPG). […] Hypogonadotropic hypogonadism occurs when there is a permanent delay in the maturation of the HPG axis. […] Kallman syndrome results from a genetic mutation of the KAL1 or FGFR1 (fibroblast growth factor receptor 1) genes. […] Hypergonadotropic hypogonadism results when there is a primary gonadal failure. […] In females, hypergonadotropic hypogonadism results from primary ovarian failure and is either acquired or congenital. […] When hypergonadotropic hypogonadism is associated with short stature, Turner syndrome (TS) must be a consideration.
  • #34
    https://link.springer.com/article/10.1007/s12020-021-02626-z
    Adolescents with CHH and CDGP both have similar clinical features and hormone profiles, i.e., low gonadotropins (FSH, LH) and sex steroids (testosterone in males and estradiol in females). […] The determination of urinary gonadotropins can be a valuable perspective to be validated in this context. […] The measurement of serum AMH concentrations combined with inhibin B has proven to give reassuring results in cases with a clinical suspicion of pubertal disorders, since their concentrations reflect the function and number of Sertoli cells. […] Based on the above reported data and the potential benefits for psychological wellbeing and final height, LDSS priming should be proposed to promote a jump start of spontaneous puberty in CDGP after a thorough discussion with the patient and their parents. […] Certainly, if differential diagnoses of CHH or hypergonadotropic hypogonadism are reached, appropriate steroid or gonadotropin treatment should be given in a timely manner at ages corresponding to physiological puberty in order to minimize psychological and somatic consequences.
  • #35 Early or Delayed Puberty – Diagnosis and Treatment
    https://rockymountaindiabetes.com/idaho-falls-diabetes-doctor-medical-services/early-or-delayed-puberty/
    When a girl or boy enters the pubescent development stage younger than the average age, it is referred to as early or precocious puberty. […] Conversely, when the development starts later than the average, the condition is referred to as delayed puberty. […] As mentioned above, in situations when a girl or boy passes through the normal age range for puberty without showing any signs of body changes or sexual development, the condition is referred to as delayed puberty. […] Children with either early or delayed puberty may not need treatment if it is determined that family genetics are the cause. However, when there is an underlying condition, abnormal pubertal development can be treated with medication to accelerate or slow the development process. […] Dr. Joshua Smith is a pediatric endocrinologist who can help! He is an expert in identifying the causes of early or delayed puberty. After a careful evaluation and diagnosis from Dr. Smith, treatment options can be identified and prescribed. […] Dr. Smith is the regions only specialist in pediatric endocrinology and is specifically trained to properly diagnose and treat both early and delayed puberty.
  • #36 Delayed Puberty | Treatment & Management | Point of Care
    https://www.statpearls.com/point-of-care/20323
    The prognosis of delayed puberty depends on the underlying condition. […] If the patient has other causes besides CDPG for the pubertal delay, it is vital that the provider evaluates the patient thoroughly so that there is a definitive diagnosis sooner, and management can commence earlier. […] When a pubertal delay is concerning, a pediatric endocrinologist should provide a consult for further evaluation and management. […] When there is concern about early or delayed puberty, patients and caregivers should seek help from a medical provider for a prompt and accurate diagnosis.
  • #37 Precocious Early Puberty | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/precocious-early-puberty
    New developments in treatments for precocious puberty have led to the successful use of synthetic luteinizing-releasing hormone (LHRH). This hormone appears to stop sexual maturation brought on by the disorder by stopping the pituitary gland from releasing gonadotropin. […] Early puberty will cause your child’s body to change much sooner than his peers. This sense of being different, coupled with the hormonal change-induced emotional mood swings, may make him feel self-conscious.
  • #38 Delayed Puberty: Signs, Causes & Treatment Explained – BuzzRx
    https://www.buzzrx.com/blog/delayed-puberty
    Blood tests such as complete blood count, tests to identify chromosomal disorders, tests to measure hormone levels, and tests to diagnose chronic illnesses that could delay puberty or cause growth problems. […] X-ray of the left hand and wrist to assess the child’s bone age. In children with delayed puberty, the bone age lags behind the chronological (calendar) age. […] The treatment for delayed puberty depends on the underlying cause. For example, if a child has a chronic illness such as diabetes mellitus, the treatment will be for diabetes. […] Hormone therapy can be given in the form of oral pills or intramuscular injections. It can help to increase the rate of growth and sexual maturation and improve the child’s mental health status. […] Delayed puberty can cause psychosocial issues such as body image concerns, low self-esteem, anxiety, depression, and social isolation.
  • #39
  • #39 Addressing Disorders of Puberty in Girls – Advances in Pediatric Endocrinology | NewYork-Presbyterian
    https://www.nyp.org/advances-pediatrics/addressing-disorders-of-puberty-in-girls
    The pediatric endocrinologists at NewYork-Presbyterian Morgan Stanley Childrens Hospital note that precocious and delayed puberty are wide-ranging classifications that describe deviations from normally timed puberty and are associated with a range of medical and psychosocial issues. They recommend that patients presenting with pubertal differences undergo a comprehensive assessment to determine the underlying etiology and to develop an effective treatment plan.
  • #40 Puberty Disorders | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/pediatric-puberty-disorders/
    Puberty is the process in which children’s bodies change into adult bodies and become capable of reproduction. In girls, the onset of puberty usually happens between the ages of 8 and 13, and in boys, between the ages of 9 and 14. […] Sometimes, puberty starts early (precocious puberty). Other times, it starts late (delayed puberty). Early or late starts do not always require treatment. In some cases, we may use medicines to help control this timing and put kids on track with their peers. This helps end the social and emotional difficulty of being far ahead of or far behind their friends. […] Delayed puberty usually runs in families or has unknown causes. We call this constitutional delay of growth and puberty. It is often a diagnosis of exclusion, meaning we can find no other cause. […] We base a puberty disorder diagnosis on a physical exam and review of your child’s medical history and blood tests to measure their hormone levels. We may also order an X-ray of your child’s hand and wrist to check their bone age. This is an estimate of your child’s skeletal maturity and remaining growth potential. […] Treatment for delayed puberty also depends on the cause. It can include nutritional therapy or replacement of thyroid, growth or puberty hormones. If there is a problem in the ovaries, testicles, thyroid or brain, we will provide specific treatment for that condition.
  • #41 Delayed puberty | Causes, Diagnosis & Treatment | Britannica
    https://www.britannica.com/science/delayed-puberty
    delayed puberty, failure of the physical development of the reproductive system by the normal stage or period of life when a child transforms into an adult capable of procreation. In girls, puberty is considered to be delayed if no pubertal development has occurred by age 13 or 14, and girls who have not menstruated by age 16 are considered to have primary amenorrhea. […] The treatment of delayed puberty depends on the specific cause, and in some cases treatment is not necessary. When the cause is diagnosed and treated, most affected children will progress through puberty and do not experience adverse long-term effects. […] Disorders of delayed puberty are treated with testosterone in boys and estrogen or progesterone in girls. These hormones stimulate the development of secondary sex characteristics.