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] Furthermore, slowed progression through the Tanner scale or lack of menarche within 3 years of breast development may also be considered delayed puberty.

[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.

[7] It is often difficult to establish if it is a true constitutional delay of growth and puberty or if there is an underlying pathology because lab tests are not always discriminatory.

[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.

[38] CNS disorders such as childhood brain tumors (e.g. craniopharyngioma, prolactinoma, germinoma, glioma) can disrupt the communication between the hypothalamus and the pituitary.

[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.

[10][39][40] Deficiencies in GnRH, the signalling hormone produced by the hypothalamus, can cause congenital malformations including cleft lip and scoliosis.

[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.

[7] If a child is healthy with a constitutional delay of growth and puberty, reassurance and prediction based on the bone age can be provided.

[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.

[10] Overall, studies have shown no significant difference in final adult height between adolescents treated with sex steroids and those who were only observed with no treatment.

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.

[44] Although testosterone therapy alone will result in the start of puberty, to increase fertility potential, they may need pulsatile GnRH or hCG with rFSH.

[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.

Hypothalamic-pituitary-testicular axis and the hormones produced by each part of the axis. The + signs indicate that the organ is stimulated by the hormones released from the previous organ in the chain.
Determination of bone age allows for comparison with chronological age and assessment of future growth potential.
Workup for delayed puberty