Familial cytomegalic adrenocortical hypoplasia: An X-linked syndrome of pubertal failure

Ian D. Hay, Peter J. Smail, Constance C. Forsyth

Research output: Contribution to journalArticle

52 Scopus citations

Abstract

Five boys with familial cytomegalic adrenocortical hypoplasia have been followed up for an average of 19 years. Despite treatment with replacement corticosteroids, all 5 failed to show a spontaneous onset of puberty and, when assessed at ages 13 to 19 years, all had both sexual infantilism and skeletal immaturity. Hypogonadism was confirmed by low levels of plasma testosterone, and pituitary reserve of gonadotrophin was shown to be inadequate by testing with gonadotrophin-releasing hormone. Two boys, both with adequate testosterone output on human chorionic gonadotrophin stimulation, were given gonadotrophin therapy, whereas the other 3 were treated with parenterally administered testosterone. With treatment, all 5 patients showed advances in pubertal staging. Although the mechanism of the hypogonadotrophism remains unclear, the association of hypogonadotrophic hypogonadism with familial cytomegalic adrenocortical hypoplasia appears to be a constant one and may be considered as a treatable inherited syndrome of pubertal failure.

Original languageEnglish (US)
Pages (from-to)715-721
Number of pages7
JournalArchives of Disease in Childhood
Volume56
Issue number9
DOIs
StatePublished - 1981

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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