title: [11 beta hydroxylase deficiency: a clinical study of seven cases].
abstract: 11 beta-hydroxylase deficiency is a rare recessive autosomal disorder. The aim of this report was to describe among a retrospective study of seven cases, different clinical pictures, problems in diagnosis and management.
  
  
  RESULTS
  the frequency of 11 beta-hydroxylase deficiency was 17.5% of congenital adrenal hypererplasia etiology in our study. Consanguinity was found in all cases. The sex ratio was 5 boys/2 girls. Median age on diagnosis was 4.3 years. Five cases were revealed with precocious puberty associated with hypertension. One patient had sexual ambiguity, Prader IV stage, hypertension appears later. One patient developed heterosexual precocious puberty and hypertension at five years of age. One patient had bilateral testicular adrenal rests. Hypertension was diagnosed early in 4 cases and secondarly in the other 3 cases. Hypertension was severe complicated by convulsions, facial paralysis and epistaxis. Hypo kaliemia was identified in six cases. Hormonal investigations confirmed diagnosis in all cases. The secondary sexual characteristics were controled by glucocorticoid substitution. Antihypertensive treatment was necessary initially and prolonged only in three cases. Prognosis of final height of patients with late diagnosis was particularly compromised.
authors.affiliation: Service de Medecine infantile A, Hopital d'enfants Bab Saadoum, Tunis, Tunisie.
authors.forename: Monia
authors.initials: M
authors.lastname: Khémiri
authors.forename: Hana
authors.initials: H
authors.lastname: Ridane
authors.forename: Yahia Olfa
authors.initials: YO
authors.lastname: Bou
authors.forename: Nadia
authors.initials: N
authors.lastname: Matoussi
authors.forename: Faouzia
authors.initials: F
authors.lastname: Khaldi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000628:therapy; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006801:Humans; D006973:Hypertension / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011629:Puberty, Precocious / Q000209:etiology; D012189:Retrospective Studies