21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.

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dc.contributor.authorBajpai, Anuragen_US
dc.contributor.authorKabra, Madhulikaen_US
dc.contributor.authorMenon, P S Nen_US
dc.date.accessioned2004-12-30en_US
dc.date.accessioned2009-05-27T05:55:48Z
dc.date.available2004-12-30en_US
dc.date.available2009-05-27T05:55:48Z
dc.date.issued2004-12-30en_US
dc.description.abstractWe evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of the disease (NC, all girls). No difference was observed in the mean (95% confidence interval) age at diagnosis in boys and girls with salt wasting (2.3 mo (0.7-3.9 mo) against 1.3 mo (0.9-1.7 mo), p not significant) despite the presence of genital ambiguity in all girls at birth. Diagnosis of salt wasting was missed at admission in 18 boys (72%) and 3 girls (14.3%) highlighting the need for high index of suspicion for the disorder. Eight patients with 46 XX karyotype (14.5%) had male-like external genitalia with cryptorchidism emphasizing the need for evaluation of boys with cryptorchidism for female pseudohermaphroditism. Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible.en_US
dc.description.affiliationDivision of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.en_US
dc.identifier.citationBajpai A, Kabra M, Menon PS. 21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children. Indian Pediatrics. 2004 Dec; 41(12): 1226-32en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/13974
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshAdrenal Hyperplasia, Congenital --diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenitalia --abnormalitiesen_US
dc.subject.meshHumansen_US
dc.subject.meshIndiaen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMaleen_US
dc.subject.meshNeonatal Screeningen_US
dc.title21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.en_US
dc.typeJournal Articleen_US
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