Abstract
The 17 hydroxylase deficiency remains a rare entity which has never been diagnosed before adulthood. We present a new case observed in a young teenage girl. This 13, 1/2 years old girl presented with hypertension (150 mm Hg), absence of puberty, delayed boneage (= 9 years), growth retardation (statural age : 11 years) hypokalaemic alkalosis (K : 2,7 mEq/1). There was no remarkable family history. Infancy and childhood had been uneventfull except for frequent tonsillitis and bronchitis.
Laboratory data included : low urinary 17 ketosteroids (2, 68 mg/24 h and 17 hydroxycorticoids increasing very little following ACTH (respectively 3,66 and 1,61 mg/24 h). Plasma gonadotrophins were markedly increased (FSH 53 an LH 116 mui/ml) as well as plasma ACTH levels (207 pg/ml). Low plasma aldosterone levels (15 pg/ml) increased sharpedly 12 h after Synacthen 1 mg IM (1500 pg/ml) while plasma renin activity remained low (1,1 ng/1/mn). Determinations of urinary steroids derivatives were as follow :
To our knowledge this is the first case of 17 hydroxylase deficiency diagnosed before adultwhood.
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David, L., Lebacq, E., Macabeo, V. et al. 17 HYDROXYLASE DEFICIENCY IN AN ADOLESCENT GIRL. Pediatr Res 9, 684 (1975). https://doi.org/10.1203/00006450-197508000-00104
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DOI: https://doi.org/10.1203/00006450-197508000-00104