Congenital adrenal hyperplasia with female pseudohermaphroditism in a 26-year-old patient.
The paper presents the case of a 26-yr-old patient admitted for intersexuality. Clinical examination shows statural deficit, female phenotype, melanoderma, glabrous tegmina except for the pubic area presenting horizontally inserted pilosity, labioscrotum devoid of contents, pseudomicropenis with hypospadias. The Barr cytogenetic test is positive (56%) and hormone assay shows plasma cortisol at the lower limit and adrenal androgenic hormones and their metabolites in excess, suppressible by dexamethasone. The patient had a history of repeated admissions to intensive care units for severe dehydration, vomiting, diarrhea and collapse.
Vlase
L
L
Braşov County Hospital, Department of Endocrinology, Romania.
Vlase
H
H
Pascu
A
A
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000601:surgery; D000328:Adult; D003131:Combined Modality Therapy; D004200:Diseases in Twins / Q000175:diagnosis / Q000628:therapy; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype