Delayed puberty
[2] Initial workup for delayed puberty not due to a chronic condition involves measuring serum FSH, LH, testosterone/estradiol, as well as bone age radiography.[4] If it becomes clear that there is a permanent defect of the reproductive system, treatment usually involves replacement of the appropriate hormones (testosterone/dihydrotestosterone for boys,[5] estradiol and progesterone for girls).[8] In North American boys, puberty is considered delayed when the testes remain less than 2.5 cm in diameter[2] or less than 4 mL in volume by the age of 14.Children residing closer to the equator, at lower altitudes, in cities and other urban areas generally begin the process of puberty earlier than their counterparts.[7] Children whose parents started puberty at an earlier age were also more likely to experience it themselves, especially in women where onset of menstruation correlated well between mothers and daughters and between sisters.[10][12] These children have a history of shorter stature than their age-matched peers throughout childhood, but their height is appropriate for bone age, meaning that they have delayed skeletal maturation with potential for future growth.[11][35] Primary failure of the ovaries or testes (gonads) will cause delayed puberty due to the lack of hormonal response by the final receptors of the HPG axis.[36] Acquired diseases include mumps orchitis, Coxsackievirus B infection, irradiation, chemotherapy, or trauma; all problems causing the gonads to fail.[7] Delayed growth and puberty can be the first signs of severe chronic illnesses such as metabolic disorders including inflammatory bowel disease and hypothyroidism.[4] A eunuchoid body shape where the arm span exceeds the height by more than 5 cm suggests a delay in growth plate closure secondary to hypogonadism.[7] Turner syndrome has unique diagnostic features including a webbed neck, short stature, shield chest, and low hairline.[7] The presence of neurological symptoms in addition to lactation are signs of high prolactin levels and could indicate either a drug side effect or a prolactinoma.[7][37] An MRI of the brain should be considered if neurological symptoms are present in addition to delayed puberty, two findings suspicious for pituitary or hypothalamic tumors.[7][36] By the age of 10–12, children with failure of the ovaries or testes will have high LH and FSH because the brain is attempting to jump-start puberty, but the gonads are not responsive to these signals.[10] Testosterone treatment can also be used to stimulate sexual development, but it can close bone plates prematurely stopping growth altogether if not carefully administered.In patients with coeliac disease, an early diagnosis and the establishment of a gluten-free diet prevents long-term complications and allows restoration of normal maturation.[7] After acceptable breast growth, administering estrogen and progestin in a cyclical manner can help establish regular menses once puberty is started.[10][44] hCG can be used by itself in boys with spontaneous onset of puberty from non-permanent forms of hypogonadotropic hypogonadism and rFSH can be added in cases of low sperm count after 6 to 12 months of treatment.[10] Girls with hypogonadotropic hypogonadism are started on the same sex steroid therapy as their counterparts with a constitutional delay, however doses are gradually increased to reach full adult replacement levels.[49][50] In cases of severe delayed puberty secondary to hypogonadism, evaluation by a psychologist or psychiatrist, as well as counseling and a supportive environment are an important supplemental therapy for the child.[31] Constitutional delay of growth and puberty is a variation of normal development with no long-term health consequences, however it can have lasting psychological effects.
SpecialtyEndocrinologysexual characteristicspubertyhormonalmalnutritionsystemic diseasesreproductive systemhypogonadismsex hormonestestosteroneestradioldihydrotestosteroneprogesteronestandard deviationsTanner scalemenarcheconstitutional delaybone agecoeliac diseasesickle cell diseasethalassemiacystic fibrosisHIV/AIDShypothyroidismchronic kidney diseaseinflammatory bowel diseasehypothalamicgonadsbulimia nervosaanorexia nervosaundernutritionCarbohydrate-restricted dietsinsulinkisspeptindiabetes mellitus type 1ovariestestesHPG axisgonadotropinhypergonadotropic hypogonadismcryptorchidismtesticlesseminiferous tubuleKlinefelter syndromeNoonan syndromeTurner syndromeXX gonadal dysgenesisXY gonadal dysgenesisaromatase deficiencyMüllerian agenesisorchitisCoxsackieviruschemotherapyhypothalamic–pituitary–gonadal axisgonadotropinshypogonadotropic hypogonadismcraniopharyngiomaprolactinomagerminomagliomaprolactinomasPrader-Willi syndromeKallmann syndromethe gonadotropin-releasing hormonePediatric endocrinologistssyndromesgrowth spurteunuchoidanosmiahypopituitarismlactationerythrocyte sedimentation ratefollicle-stimulating hormoneluteinizing hormonegonadotropin-releasing hormoneprolactinkaryotypeadrenal17-hydroxylasearomatase inhibitorsestrogengluten-free dietprimary ovarian failureProgestinsprogestinGrowth hormoneidiopathic short staturevitamin Aneurokinin Bbone mineral densityandrogenDevelopmental milestonesConstitutional growth delayLegato MJGonadal disorderOvarianPolycystic ovary syndromePremature ovarian failureHyperthecosis5α-reductase 2 deficiency17β-Hydroxysteroid dehydrogenase deficiencyAromatase excess syndromeAndrogen receptorAndrogen insensitivity syndromeMild androgen insensitivity syndrome Partial androgen insensitivity syndromeComplete androgen insensitivity syndromeFamilial male-limited precocious pubertySertoli cell-only syndromeHypergonadismPrecocious pubertyHypoandrogenismHypoestrogenismHyperandrogenismHyperestrogenismPostorgasmic illness syndromeCytochrome P450 oxidoreductase deficiencyCytochrome b5 deficiencyAndrogen-dependent conditionEstrogen insensitivity syndromeFertile eunuch syndromeEstrogen-dependent conditionPremature thelarcheGonadotropin insensitivityHypergonadotropic hypergonadism