ESPE Abstracts

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...

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...

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...

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...

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...

Introduction: Majority of births in Sri Lanka occur in hospitals, with birth registration completed prior to discharge. When babies with atypical genitalia are missed at birth, and gender re-assignment decided, following later detection and evaluation, families faced many challenges to obtain a “clear” birth certificate (BC), without incriminating details of prior name or sex.Objectives: To describe character...

Introduction: There is some evidence to suggest that the SARS-CoV-2 virus affects endocrine organs and metabolic processes. However much of the available evidence involves adults. We conducted a systematic review to summarise recent evidence on the effects of COVID-19 on the incidence and disease control of type I diabetes mellitus (T1DM) among children and adolescents.Method: We conducted a literature search up to 05/03...

Introduction: There is limited data on endocrine manifestations of the COVID-19 pandemic in children/adolescents. We conducted a scoping review to summarize available evidence.Method: A literature search was conducted using PubMed, Scopus and Google Scholar databases to identify studies on endocrine manifestations of COVID-19 in children/adolescents, published up to 31/03/2023 using pre-specified keywords, and perusing a...

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...

Introduction: Mutations of the SCN8A gene, which encodes a neuronal voltage-gated sodium channel are associated with an epileptic encephalopathy of varying severity and neurodevelopmental delay. A few cases are reported, where epileptic encephalopathy due to SCN8A mutations have been associated with multiple fractures and bone loss suggestive of juvenile osteoporosis.Case Presentation: Two girls, aged 19-months were refe...