Premature pubarche in a child with abnormal 3β‐hydroxysteroid dehydrogenase function and Klinefelter syndrome: the intriguing relationship between androgen deficiency and excess
نویسندگان
چکیده
Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.
منابع مشابه
Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report
Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...
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Two young girls with hirsutism and premature pubarche showed nonclassical 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency. Post-ACTH increased serum delta 5-17-hydroxypregnenolone and increased ratio of delta 5-17-hydroxypregnenolone/17-hydroxyprogesterone are the most sensitive indicators of nonclassical 3 beta-HSD deficiency. Nonclassical 3 beta-HSD deficiency may not be uncommon,...
متن کاملChildren with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
BACKGROUND Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature...
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Background: Aqueous extract of winter cherry (Physalis alkekengi L; family of Solanaceae) fruits (WCF) has long been recommended for fertility control by herbalists in Iran. The effect of this extract on lowering serum progesterone levels has been reported previously. Objective: To study the effects of WCF extract on the activities of ovarian 3β-hydroxysteroid dehydrogenase (3β-HSD) responsible...
متن کاملCongenital adrenal hyperplasia: clinical symptoms and diagnostic methods.
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated a...
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عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2017