Management of Infants with Congenital Adrenal Hyperplasia

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.

Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia

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.

An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi

Objective: To determine an appropriate cut-off of capillaryThyroid stimulating hormone (TSH) for congenitalhypothyroidism.Study design: Cross-sectional.Participants: 174,000 neonates born in different hospitals ofDelhi, India, from November 2014 to October 2016.Main outcome measures: Correlation between initial andrepeat capillary TSH level and subsequent venous free thyroxine(fT4) level.Results: 102 newborns with initial/ repeat capillary TSH level of≥20 mIU/L (n=174) were confirmed to have congenitalhypothyroidism at mean (SD) age of 5 (4) days. A goodcorrelation between capillary TSH level and confirmatory venousfT4 level and postnatal age of sampling was obtained (r -0.6,-0.4). The area under the ROC curve (AUC) was 0.81 (95%CI0.75 to 0.88), indicating referral capillary TSH level of 20 mIU/L tobe a good predictor of subsequent high venous TSH level.Conclusion: A cut off of ≥20 mIU/L for capillary TSH screeningbeyond 24 hours of life is optimal in the Indian setting for decidingfurther recall and workup, keeping a balance between sensitivityand recall rate.

Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Dis- orders-5 (DSM-5)

Objective: To compare the diagnostic accuracy of INCLEN Diagnostic Tool for AutismSpectrum Disorder (INDT-ASD) against Diagnostic and Statistical Manual of MentalDisorders – 5 (DSM-5) for the diagnosis of Autism Spectrum Disorder (ASD). Methods: 118children aged 2-9 years with symptoms suggestive of ASD were assessed by INDT-ASDand DSM-Vby trained personnel. ASD diagnosis by INDT-ASD was compared against theexpert’s DSM-5 diagnosis. Results: INDT-ASD had a sensitivity and specificity of 100% and75%, respectively against DSM-5 for the diagnosis of ASD; specificity for Autistic Disorderwas 87%. Conclusion: The INDT-ASD has a good sensitivity and specificity against DSM-5,and can continue to be used for the diagnosis of ASD even after the adoption of DSM-5criteria