POSSIBLE 11-HYDROXYLASE DEFICIENCY ADRENAL HYPERPLASIA AMONG VIRILIZED YOUNG FEMALES
نویسندگان
چکیده
منابع مشابه
Congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency.
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of 11 beta-hydroxylase deficiency that was originally misdiagnosed as 21-hydroxylase deficiency. Hyp...
متن کاملTesticular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia
Testicular adrenal rest tumors (TART) occur often as asymptomatic nodules in corticotropin-dependent lesions aberrant adrenal tissue in congenital adrenal hyperplasia (CAH) patients. The present manuscript is about an unusual case of a 16-year-old CAH patient due to 11β-hydroxylase deficiency. He underwent testicle biopsy because of testicle tumor suspicion and diagnosed with TART.
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Nine patients with 11 beta-hydroxylase deficiency had 13 episodes of gastroenteritis requiring hospital admission and fluid administration. Eight episodes were accompanied by hyponatraemia and salt loss. The salt losing patients were treated with excessive glucocorticoid and those with normal serum sodium concentrations were treated with inadequate glucocorticoid. Excessive glucocorticoid suppr...
متن کاملCongenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: description of a new mutation, R384X
CASE DESCRIPTION It is presented the phenotype of a new compound heterozygous mutation of the genes R384X and Q356X encoding the enzyme of 11-beta-hydroxylase. CLINICAL FINDINGS Severe virilization, peripheral hypertension, and early puberty. TREATMENT AND OUTCOME Managed with hormone replacement therapy (corticosteroid) and antihypertensive therapy (beta-blocker), resulting in the control ...
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Ann Saudi Med 2006;(3):239-241 the psychoendocrinology of the development of gender identity in patients with congenital adrenal hyperplasia (caH) is poorly understood. prenatal androgen exposure, postnatal hormonal influence, degree of external genitalia virilization, genital appearance, social rearing and other biological factors, are all thought to have an effect on gender identity developme...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1984
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198404001-00462