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.<...

hrp0095p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynaecomastia And Its Management In Partial Androgen Insensitivity Syndrome (PAIS)

Patjamontri Supitcha , Lucas-Herald Angela , Bryce Jillian , Cools Martine , Gianni Russo , Globa Evgenia , Zelinska Natalia , Guerra-Junior Gil , Holterhus Paul-Martin , A Hughes Ieuan , Tadokoro-Cuccaro Rieko , Nordenstrom Anna , Rita Stancampiano Marianna , Weintrob Naomi , van den Akker Erica , Hiort Olaf , Hoffman Paul , Juul Anders , Nimali Seneviratne Sumudu , Faisal Ahmed S.

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...