• PMID: 24204987
• Gene Name: AMH
• Condition: Isolated hypogonadotropic hypogonadism (HH)
• Association: Fourteen had Kallmann syndrome (KS), 4 had CHARGE syndrome and 28 had HH without olfaction deficit nor olfactive bulb hypoplasia. Eighteen had an associated malformation or syndromes. They presented with micropenis (n = 32, 69.6%, including all those
• Population size: 46
• Population details: 46 boys with HH
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Isolated hypogonadotropic hypogonadism (HH)

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

Vizeneux A, Hilfiger A, Bouligand J, Pouillot M, Brailly-Tabard S, Bashamboo A, McElreavey K, Brauner R.

BACKGROUND: The majority of the patients reported with mutations in isolated hypogonadotropic hypogonadism (HH) are adults. We analysed the presentation and the plasma inhibin B and anti-müllerian hormone (AMH) concentrations during childhood and adolescence, and compared them to the genetic results. METHODS: This was a retrospective, single-center study of 46 boys with HH. RESULTS: Fourteen (30.4%) had Kallmann syndrome (KS), 4 (8.7%) had CHARGE syndrome and 28 (60.9%) had HH without olfaction deficit nor olfactive bulb hypoplasia. Eighteen (39%) had an associated malformation or syndromes. At diagnosis, 22 (47.8%) boys were aged