ABSTRACT
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 Subject(s)
CHARGE Syndrome/genetics
, Genetic Markers/genetics
, Hypogonadism/genetics
, Kallmann Syndrome/genetics
, Adolescent
, Adult
, Anti-Mullerian Hormone/blood
, CHARGE Syndrome/blood
, CHARGE Syndrome/diagnosis
, Child
, Child, Preschool
, Follow-Up Studies
, Humans
, Hypogonadism/blood
, Hypogonadism/congenital
, Hypogonadism/diagnosis
, Infant
, Infant, Newborn
, Inhibins/blood
, Kallmann Syndrome/blood
, Kallmann Syndrome/diagnosis
, Karyotyping
, Male
, Prognosis
, Retrospective Studies
, Young Adult
