ESPE Abstracts (2016) 86 P-P2-86

Congenital Adrenal Hyperplasia Revealed by Adrenal Nodules

Ali El Mahdi Haddama, Nora Soumeya Fedalab & Djamila Meskinea


aDepartment of Endocrinology Bologhine Hospital, Algiers, Algeria; bDepartment of Endocrinology Bab El Oued Hospital, Algiers, Algeria


Background: Congenital adrenal hyperplasia (CAH) is a pathology with a genetic deficiency of one of the enzymes of steroidogenesis. It is due to 21 –Ohase deficiency in 90–95% of cases. The complete deficiency of this enzyme is responsible for the classic form (sexual ambiguity at birth with or without salt loss). While the partial deficiency results in a polymorphic clinical presentation occurring in childhood or adolescence. In rare neglected cases, the diagnosis is made during the exploration of adrenal masses.

Objective and hypotheses: Reporting phenotypic characteristics of adolescents with CAH revealed later during the exploration of adrenal masses.

Method: This is a retrospective study involved six teens carry a CAH unknown. A clinical and oriented paraclinical (biological and radiological) assessment was conducted.

Results: All patients were female. Their average age was 14±0.8 (15–18). The CAH was due to deficit in 21 -OHase. Diagnostic circumstances are: exploration of amenorrhea: 4; Radiological discovery: 2. The clinical picture found in all cases, an array of significant virilization with primary amenorrhea and small stature (average size - 2.5 SD/M Sempe, - 2 DS/TC). Laboratory tests were in favor: DHA S average:1245 ug/dl, 17 OH P average: 49.6 ng/ml, ACTH average: 90 pg/ml. Abdominal CT found bilateral nodular adrenal hypertrophy n: 6. Pelvic ultrasound found a small uterus with polycystic ovaries.

Conclusion: CAH late-onset is a diagnosis to be systematically sought in front adolescent patients with signs of hyperandrogenism associated with virilization and cycle disorders. The diagnosis must be as early as possible to allow normal growth, female puberty and satisfactory fertility.

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