Title : A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity

Pub. Date : 2018 Oct 13

PMID : 30328339






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1 In future, we are planning to place him onandrogen replacement as well.Learning points:Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards someunusual varieties of CAH.High level of serum testosterone, adrenal androgen, plasma ACTH and low basal cortisol are proof of CAH,whereas elevated level of 17-OH pregnenolone is biochemical marker of 3beta-HSD enzyme deficiency.Final diagnosis can be obtained with sequencing of HSD3B2 gene showing various mutations.Presence of bilateral cryptorchidism in such a patient may be due to underlying hypogonadism.Karyotyping in such patient may rarely show mosaic KS (47,XXY/46,XX) and there might be unmasking ofhypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment. Testosterone proopiomelanocortin Homo sapiens