Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

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dc.contributor.authorMathur, Ren_US
dc.contributor.authorKabra, Men_US
dc.contributor.authorMenon, P Sen_US
dc.date.accessioned2001-01-13en_US
dc.date.accessioned2009-06-03T05:51:01Z
dc.date.available2001-01-13en_US
dc.date.available2009-06-03T05:51:01Z
dc.date.issued2001-01-13en_US
dc.description47 references.en_US
dc.description.abstractCongenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.en_US
dc.description.affiliationDivision of Genetics and Paediatric Endocrinology, Department of Paediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110029, India. rolimath@hotmail.comen_US
dc.identifier.citationMathur R, Kabra M, Menon PS. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects. National Medical Journal of India. 2001 Jan-Feb; 14(1): 26-31en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/118648
dc.language.isoengen_US
dc.source.urihttps://www.nmji.inen_US
dc.subject.meshAdrenal Hyperplasia, Congenital --diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPrenatal Diagnosisen_US
dc.titleDiagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
dc.typeReviewen_US
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