OC29.05: Just images: Ambiguous genitalia prenatal diagnosis: congenital adrenal hyperplasia

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Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia.

A major hallmark of classical congenital adrenal hyperplasia (CAH) is genital ambiguity noted at birth in affected females, which leads to psychological and psychosexual issues in adult life. Attempts to correct genital ambiguity through surgical intervention have been partially successful. Fetal hyperandrogenemia and genital ambiguity have been shown to be preventable by prenatal administratio...

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a review of patients with ambiguous genitalia due to congenital adrenal hyperplasia

to review the diffrent aspects of gender, subtype of cah, management and results in all our patients with ambiguous genitalia diagnosed as congenital adrenal hyperplasia during the past 30 years. methods: the files of all our patients with cah reviewed retrospectively. results: out of 256 patients who had ambiguous genitalia due to cah, 96% were female and 4% were male. 21-ohd was diagnosed in ...

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Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia is a group of inherited disorders caused by an enzyme deficiency in steroid biosynthesis. The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. Steroid 21-hydroxylase deficiency can be diagnosed in utero through molecular genetic analysis of fetal DNA. Prenatal treatmen...

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Prenatal Dexamethasone for Congenital Adrenal Hyperplasia

Following extensive examination of published and unpublished materials, we provide a history of the use of dexamethasone in pregnant women at risk of carrying a female fetus affected by congenital adrenal hyperplasia (CAH). This intervention has been aimed at preventing development of ambiguous genitalia, the urogenital sinus, tomboyism, and lesbianism. We map out ethical problems in this histo...

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Congenital adrenal hyperplasia: diagnosis, evaluation, and management.

1. Describe the pathophysiology of congenital adrenal hyperplasia (CAH). 2. Characterize the signs and symptoms of CAH. 3. Describe the appropriate laboratory evaluation of CAH. 4. Know that CAH can be diagnosed prenatally. 5. Recognize adrenal insufficiency by laboratory and clinical evaluation. 6. Anticipate and plan treatment for both acute adrenal crisis and long-term therapy for a patient ...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics and Gynecology

سال: 2005

ISSN: 0960-7692

DOI: 10.1002/uog.2170