Abstract
25 cases of congenital adrenal hyperplasia due to 11β hydroxylase deficiency belonging to 17 families have been diagnosed in Israel.These provided an unique appertunity to study the clinical spectrum of this disease. Patients were of North-African Jewish extraction.Diagnosis was suspected by clinical evidence of premature or abnormal virilisation associated in some cases with hypertension.The diagnosis confirmed biochemically by the presence of high urinary levels of tetra hydro 11 deexycortisol.In affected females clinical expression varied from enlarged clitoris to severely hypertrephied clitoris with penile urethra and fused labial scrotal folds.10 out of 14 females who were not diagnosed early in life were reared as males,required corrective surgery at puberty. Removed ovaries showed cystic changes.In these androgen excess was uneffective in suppressing gonadotropin secretion.Hypertension was present in 15/25 cases and led to fatal vascular accidents in 3 cases.Hypokalemia,observed in 9 patients was not correlated to hypertension.Except in infants,low levels of renin activity were found in all untreated cases,indicating a state of volume expansion.No correlation was found between the degree of virilization and biochemical evidence of mineralocerticoid excess.Preliminary data on an attempt at antenatal diagnosis by measuring THE in maternal urine and fetal amniotic fluid of affected cases will be reported.
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Leiberman, E., Rossler, A., Cohen, T. et al. Congenital adrenal hyperplasia due to 11β hydroxylase deficiency. Pediatr Res 15, 1558 (1981). https://doi.org/10.1203/00006450-198112000-00138
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DOI: https://doi.org/10.1203/00006450-198112000-00138