2010年8月30日 · Congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency (21-OH CAH), accounts for over 95% of diagnosed cases[1] . Other enzyme defects also exist, most …

Pelvic ultrasound confirmed the presence of the uterus and ovaries. A syacthen test on 17 hydroxy-progesterone was performed confirming the diagnosis of congenital adrenal …

2010年8月25日 · In the present study, long-term cosmetic and functional reproductive outcomes of women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency were …

This young woman has the most severe form of congenital adrenal hyperplasia (CAH), classic salt-losing 21-hydroxylase deficiency. CAH describes a group of autosomal recessive …

2011年9月2日 · Females with severe forms of CAH due to deficiency of 21-hydroxylase have ambiguous genitalia at birth due to excess adrenal androgen production in utero, that range …

2014年6月1日 · Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders that cause deficiency in an adrenal enzyme resulting in the impairment of …

A 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal …

Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder associated with an excess production of androgens. It results from a deficiency in one of five enzymes involved in …

2008年4月1日 · Newborn screening for CAH due to 21-hydroxylase deficiency is performed by fluorometric assay to measure the 17-hydroxyprogesterone levels. Testicular feminization, or …

2021年9月8日 · Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders that is the most common cause of ambiguous genitalia seen in clinical practice. …