012 Non-invasive prenatal diagnosis of congenital adrenal hyperplasia
نویسندگان
چکیده
منابع مشابه
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...
متن کاملPrenatal 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...
متن کاملPrenatal 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Following extensive examination of published and unpublished materials, we provide a history of the use of dexamethasone in pregnant women at risk of carrying a female fetus affected by congenital adrenal hyperplasia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...
متن کاملCongenital 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 ...
متن کاملNon-Classical Congenital Adrenal Hyperplasia in Childhood
Congenital adrenal hyperplasia (CAH) is classified as classical CAH and non-classical CAH (NCCAH). In the classical type, the most severe form comprises both salt-wasting and simple virilizing forms. In the non-classical form, diagnosis can be more confusing because the patient may remain asymptomatic or the condition may be associated with signs of androgen excess in the postnatal period or in...
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ژورنال
عنوان ژورنال: Reproductive BioMedicine Online
سال: 2012
ISSN: 1472-6483
DOI: 10.1016/s1472-6483(12)60217-x