Treatment of congenital adrenal hyperplasia and Klinefelter Syndrome with central precocious puberty: a case report.

ABSTRACT: The simultaneous occurrence of Klinefelter syndrome (KS) and congenital adrenal hyperplasia (CAH) is extremely rare, as the former causes androgen deficiency, while the latter results in androgen excess. In addition, central precocious puberty (CPP) will occur, which is caused by the activation of the hypothalamic-pituitary-gonadal (HPG) axis by androgens. We present the 7th reported case of simultaneous KS and CAH in a boy with CPP due to protopathy of CAH. He presented with increased gonadotropin and excessive androgen levels, and was diagnosed with KS due to his unexpected karyotype analysis results. This is the first reported case of an association between KS and CAH to undergo gonadotropin-releasing hormone analog (GnRHa) and recombinant human growth hormone (rhGH) therapy to increase

SUBMITTER: Li Y 

PROVIDER: S-EPMC8905097 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature