ISSN 1662-4009 (online)

ey0018.7-8 | Basic Science | ESPEYB18

7.8. Oral contraceptive use, especially during puberty, alters resting state functional connectivity

R Sharma , Z Fang , A Smith , N Ismail

Horm Behav. 2020;126:104849. 10.1016/j.yhbeh.2020.104849. https://www.sciencedirect.com/science/article/abs/pii/S0018506X20301756?via%3DihubIn brief: This study used functional MRI to compare resting state functional connectivity in women who started oral contraception during puberty or ad...

ey0015.13-19 | Advances in the Diagnosis and Management of Congenital Hypothyroidism | ESPEYB15

13.19 Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) - Part I: Screening and Confirmation of Diagnosis

MP Desai , R Sharma , I Riaz , S Sudhanshu , R Parikh , V Bhatia

To read the full abstract: Indian J Pediatr 2018; 85(6):440-447In 2017, the population of India was estimated at 1.28 billion. With a birth rate of 19/1000, it means that 24.4 million babies are born each year in India. More than half of the births take place at home, in particular in rural India. Assuming an incidence of 1:2500 for congenital hypothyroidism (CH), close to 10,000 babies are b...

ey0015.13-20 | Growth and Development | ESPEYB15

An increasing number of publications focuses on characteristics of growth and development that are specific to children and youth living in resource-limited countries. Some articles offer thought-provoking hypotheses that may change the way we think about the interaction between growth and the environment.

MP Desai , R Sharma , I Riaz , S Sudhanshu , R Parikh , V Bhatia

To read the full abstract: Lancet 2017; 390(10113):2627-2642Over the past 10 years, the prevalence of Type 2 diabetes (T2DM) has increased disproportionately in Africa, South East Asia, the Middle East and the Asia Pacific region. Interestingly, although we need more studies investigating the prevalence of T2DM in Latin America, the prevalence of T2DM in youth living in these countries do...

ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:1479–1490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...