Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up.
نویسندگان
چکیده
منابع مشابه
بررسی 10 ساله تظاهرات بالینی و شیوع انواع هیپرپلازی مادرزادی آدرنال در انستیتو غدد درون‌ریز و متابولیسم
Background & Objective: Congenital Adrenal Hyperplasia(CAH) includes a group of inherited diseases which are caused by enzyme defects in the synthesis of cortisol from cholesterol. It manifests itself in different forms like ambiguous genitalia, adrenal crisis in infants, precocious puberty in children, hirsutism, oligomenorrhea and infertility in adults. Although CAH is one of the most com...
متن کاملUniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia
Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whose newborn screen indicated borderline CAH. The patient presented on the 7th day of life in salt-w...
متن کاملGenetics of hypertensive syndrome.
The knowledge of the genetic bases of hypertension has improved over the last decade; this area of research has high priority due to the high incidence of hypertension and its impact on public health. Monogenetic mineralocorticoid hypertension syndromes are associated with suppressed plasma renin activity due to excessive activation of the mineralocorticoid pathway. We review the pathophysiolog...
متن کاملSteroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess.
Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol fr...
متن کاملClinical and molecular characterization of patients with classic 3β-hydroxysteroid dehydrogenase deficiency
Background 3b-hydroxysteroid dehydrogenase type 2 (3bHSD2) is the key enzyme converting Δ5-steroids to Δ4-ketosteroids in adrenal and gonadal steroidogenesis. Severe lossof-function mutations of HSD3B2 gene encoding for this enzyme cause the rare form of congenital adrenal hyperplasia, “3bHSD deficiency”. Affected individuals have salt losing, adrenal insufficiency and ambiguous genitalia in bo...
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ورودعنوان ژورنال:
- Saudi medical journal
دوره 25 9 شماره
صفحات -
تاریخ انتشار 2004