• PMID: 20980953
• Gene Name: AMH
• Condition: Congenital hypogonadotropic hypogonadism (HH)
• Association: Before puberty, plasma inhibin B and AMH concentrations may be normal despite HH. At pubertal age, both are low in some patients with HH. These hormone values may help discriminate between HH and constitutional pubertal delay together with plasma FSH and
• PMID: 20980953
• Gene Name: AMH
• Condition: Congenitalhypogonadotropic hypogonadism
• Association: Before puberty, plasma inhibin B and AMH concentrations may be normal despite HH. At pubertal age, both are low in some patients with HH. These hormone values may help discriminate between HH and constitutional pubertal delay together with plasma FSH and
• Population size: 67
• Population details: 67 (39 diagnosed with constitutional pubertal delay, 15 isolated HH, pituitary stalk interruption syndrome (3a with [n=5] and 3b [n=8] without HH)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: AMH, inhibinB
• Other associated phenotypes: Congenitalhypogonadotropic hypogonadism

Plasma inhibin B and antimüllerian hormone concentrations in boys: discriminating between congenital hypogonadotropic hypogonadism and constitutional pubertal delay

Adan L, Lechevalier P, Couto-Silva AC, Boissan M, Trivin C, Brailly-Tabard S, Brauner R.

BACKGROUND: Inhibin B and antimüllerian hormone (AMH) are secreted by the Sertoli cells, stimulated by gonadotropins. We evaluated their use for discriminating between congenital hypogonadotropic hypogonadism (HH) and constitutional pubertal delay. MATERIAL/METHODS: Group 1 (n=39) was diagnosed with constitutional pubertal delay; group 2 (n=15), isolated HH; and group 3, pituitary stalk interruption syndrome (3a with [n=5] and 3b [n=8] without HH). RESULTS: At pubertal age, mean plasma inhibin B concentrations were similar in the groups having the same gonadotropin status. Individual concentrations were normal in groups 1 and 3b, but low in 6 group 2, and 3 group 3a patients. Four group 2, and 1 group 3a, also had low AMH. Among these 9 with low inhibin B, 1 in each group evaluated before puberty had had normal inhibin B and AMH. In contrast, inhibin B increased (P<.03) and AMH decreased (P<.02) in 7 group 3b patients from before to after puberty. There were 20 patients with inhibin B below 100 pg/mL including 4 group 1, 13 group 2, and 3 group 3a. The basal plasma follicle stimulating (FSH) and luteinizing (LH) hormone concentrations were < 1 IU/L in 18%, 36% in group 1, and in 56% and 100% in group 2. CONCLUSIONS: Before puberty, plasma inhibin B and AMH concentrations may be normal despite HH. At pubertal age, both are low in some patients with HH. These hormone values may help discriminate between HH and constitutional pubertal delay together with plasma FSH and LH. FAU - Adan, Luis AU - Adan L AD - Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie Pédiatrique, Le Kremlin Bicêtre, France. FAU - Lechevalier, Pauline AU - Lechevalier P FAU - Couto-Silva, Ana-Claudia AU - Couto-Silva AC FAU - Boissan, Mathieu AU - Boissan M FAU - Trivin, Christine AU - Trivin C FAU - Brailly-Tabard, Sylvie AU - Brailly-Tabard S