A rare variety of congenital adrenal hyperplasia with mosaic Klinefelter syndrome: a unique combination presenting with ambiguous genitalia and sexual precocity
Endocrinology, diabetes & metabolism case reports(2018)
摘要
Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency
is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is
the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However,
only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due
to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency
are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth
presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed
accelerated growth with advanced bone age, premature pubarche, phallic enlargement and hyperpigmentation.
Biochemically, the patient was proven to have CAH due to 3β-HSD deficiency. However, the co-existence of bilateral
cryptorchidism made us to consider the possibility of hypogonadism as well, and it was further explained by concurrent
existence of mosaic KS (47,XXY/46,XX). He was started on glucocorticoid and mineralocorticoid replacement and
underwent right-sided orchidopexy on a later date. He showed significant clinical and biochemical improvement on
subsequent follow-up. However, the declining value of serum testosterone was accompanied by rising level of FSH
thereby unmasking hypergonadotropic hypogonadism due to mosaic KS. In future, we are planning to place him on
androgen replacement as well.
Learning points:
•• Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards some
unusual 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 3β-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 of
hypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment.
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关键词
mosaic klinefelter syndrome,congenital adrenal hyperplasia,ambiguous genitalia
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