A Klinefelter boy with congenital adrenal hyperplasia: Too much or too little androgens?

Giada Zanella, Gianluca Tornese, Elisabetta Mascheroni, Elena Faleschini, Alessandro Ventura, Egidio Barbi

Research output: Contribution to journalArticlepeer-review


Background: The simultaneous occurrence of Klinefelter Syndrome (KS) and Congenital Adrenal Hyperplasia (CAH) is an exceptional event: There are just three case reports (two children and a 51 years old man) describing males affected by both KS and 21OHD (21-hydroxylase deficiency) CAH, the first causing androgen deficiency, the latter leading to androgen excess. Case report: We report the 4th case of association of KS and CAH in a young man with CAH with good androgen control and with normal secondary sex characteristics, whose Klinefelter syndrome was diagnosed because of reduced testicular volume. He was the first reported case of association of KS and CAH who started androgen replacement therapy in the pubertal age and whose pubertal development was described and followed up step by step. Conclusion: In a boy with CAH and small testicular volume, it's important to consider that hypogonadism may be masked by the adrenal androgens excess and a karyotype should be performed once testicular adrenal rests have been ruled out.

Original languageEnglish
Article number43
JournalItalian Journal of Pediatrics
Issue number1
Publication statusPublished - Apr 3 2018


  • Congenital adrenal hyperplasia
  • Hypogonadism
  • Klinefelter

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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