Indian Pediatrics

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Browsing Indian Pediatrics by Subject "17OHP"

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    Management of Infants with Congenital Adrenal Hyperplasia
    (Indian Academy of Pediatrics, 2020-02) Dabas, Aashima; Vats, Pallavi; Sharma, Rajni; Singh, Preeti; Seth, Anju; Jain, Vandana; Batra, Prerna; Gupta, Neerja; Kumar, Ravindra; Kabra, Madhulika; Kapoor, Seema; Yadav, Sangeeta
    Treatment of congenital adrenal hyperplasia (CAH) requires lifelong replacement of glucocorticoids with regular follow up to manageassociated morbidities. The current review focuses on follow-up and management of infants diagnosed with classical CAH pertinent toIndian context. Early initiation of oral hydrocortisone in divided doses is recommended after diagnosis in newborn period, infancy andchildhood. Fludrocortisone is recommended for all infants with classical CAH. All infants should be monitored as per protocol fordisease and treatment related complications. The role of prenatal steroids to pregnant women with previous history of CAH affectedinfant for prevention of virilization of female fetus is controversial.
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    Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
    (Indian Academy of Pediatrics, 2020-01) Vats, Pallavi; Dabas, Aashima; Jain, Vandana; Seth, Anju; Yadav, Sangeeta; Kabra, Madhulika; Gupta, Neerja; Singh, Preeti; Sharma, Rajni; Kumar, Ravindra; Polipalli, Sunil K; Batra, Prerna; Thelma, BK; Kapoor, Seema
    Congenital adrenal hyperplasia (CAH) is an autosomal recessive endocrine disorder which can manifest after birth with ambiguousgenitalia and salt-wasting crisis. However, genital ambiguity is not seen in male babies and may be mild in female babies, leading to amissed diagnosis of classical CAH at birth. In this review, we provide a standard operating protocol for routine newborn screening forCAH in Indian settings. A standardization of first tier screening tests with a single consistent set of cut-off values stratified by gestationalage is also suggested. The protocol also recommends a two-tier protocol of initial immunoassay/time resolved fluoroimmunoassayfollowed by liquid chromatography tandem mass spectrometry for confirmation of screen positive babies, wherever feasible. Routinemolecular and genetic testing is not essential for establishing the diagnosis in all screen positive babies, but has significant utility inprenatal diagnosis and genetic counseling for future pregnancy.