hrp0094p2-413 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Challenges faced by children and adolescents with Differences in Sex Development (DSD) managed at a tertiary care specialized university center in Sri Lanka

Jayakody Chamath , Seneviratne Sumudu

Introduction: DSDs encompass a heterogenous group of conditions associated with multiple medical and psychosocial challenges. There is a paucity of data from patients from relatively low resource settings, where difficulties faced and their management may differ based on the different socio-cultural background. Objectives: To describe the underlying condition, presentation, medico-social issues, problems and challenges, and their management in a cohort o...

hrp0094p2-428 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Case series: Use of tamoxifen in the management of gynaecomastia in three adolescent boys with 46 XY DSD

Jayakody Chamath , Seneviratne Sumudu

Background: Management of gynaecomastia in adolescent males with Partial Androgen Insensitivity Syndrome (PAIS) remains a clinical conundrum. The main mode of treatment is mastectomy, while literature on pharmaceutical management is limited. This case series evaluates outcome of 3 children treated with tamoxifen. Case 1: A 16-year-old-boy with genetically confirmed PAIS, presented with bilateral gynaecomastia at 11 years of age. He had severe under-viril...

hrp0086p2-p77 | Adrenal P2 | ESPE2016

Management Dilemmas in a Genetically Female Child with Congenital Adrenal Hyperplasia Raised as a Male

Seneviratne Sumudu , Samarasinghe Malik , de Silva KSH

Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and d...

hrp0086p1-p929 | Thyroid P1 | ESPE2016

Neonatal Thyrotoxicosis and Craniosynostosis Associated with Maternal Graves’ Disease and High Dose maternal Thyroxine Therapy for Papillary Carcinoma

Seneviratne Sumudu , Lucus Nishani , Weerasinghe Ashangi

Background: Neonatal Graves’ disease (NGD) occurs in 1–2% pregnancies with maternal Graves’ disease. Thyroid auto-antibodies can persist in the maternal circulation even 10 years after thyroidectomy and can lead to NGD in the absence of maternal thyrotoxicosis. Both maternal stimulating autoantibodies and maternal thyroxine can cross the placenta, and have been implicated in neonatal craniosynostosis.Objective and hypotheses: We report a c...

hrp0086p1-p455 | Fat Metabolism and Obesity P1 | ESPE2016

Seven-year Follow-up of Mothers from a Randomized Controlled Trial of Exercise in Pregnancy and their Offspring

Chiavaroli Valentina , Hopkins Sarah , Derraik Jose , Seneviratne Sumudu , Biggs Janene , Rodrigues Raquel , Cutfield Wayne , Hofman Paul

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0089p1-p115 | Fat, Metabolism and Obesity P1 | ESPE2018

Greater Maternal BMI Early in Pregnancy and Excessive Gestational Weight Gain are Independently Associated with Adverse Health Outcomes in the Offspring at Age 7 Years

Derraik Jose G B , Chiavaroli Valentina , A Hopkins Sarah , Biggs Janene B , Rodrigues Raquel O , Seneviratne Sumudu N , McCowan Lesley M E , Cutfield Wayne S , Hofman Paul L

Background: Maternal overweight/obesity during pregnancy and excessive gestational weight gain (GWtG) have been recognized as important early-life risk factors for childhood obesity. We aimed to examine whether maternal BMI at 20 weeks of gestation and excessive GWtG were associated with alterations in body composition and metabolism in childhood in the offspring of primiparous mothers who participated in a randomised controlled trial of exercise regimen during pregnancy.<...