ESPE Abstracts

Keywords: Central Precocious Puberty, Girls, Peripheral, IdiopathicBackground: Precocious puberty is thought to occur in 1 in 5000–10,000 people. Precocious puberty is a neglected topic in Pakistan, and little research has been done so far to examine its aetiology in our population, despite its importance and relative prevalence.Objective: To find the frequency of precocious ...

Background: CYP11A1 gene encodes the cholesterol side-chain cleavage enzyme, P450scc, which plays a key role in the initial steps of steroidogenesis. CYP11A1 insufficiency lead to a variable phenotype ranging from severe early onset primary adrenal insufficiency (PAI) in the neonatal period,with 46,XY DSD; to late-onset PAI with normal genitalia.Objective: Detail the phenotype of a family sharing newly described...

Background & Aim: Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive condition caused by mutation in CYP27B1, which encodes 1 α-hydroxylase enzyme that catalyzes the conversion of 25-hydroxyvitamin D (25OHD) to 1,25-dihydroxyvitamin D (1,25 (OH)2D). We are reporting 4 cases of VDDR1A due to CYP27B1 mutation initially misdiagnosed as vitamin D deficient and hypophosphatemic rickets.<p class="abstext...

Background: Proteins encoded by LEP, LEPR and MC4R genes are principally involved in driving the leptin-melanocortin pathway. Mutations in these genes induce a rare and severe form of monogenic obesity but the long-term evolution of these afflictions is unknown. Here, we carried out a clinical investigation on 132 children with LEP, LEPR and MC4R deficiency from Pakistan to evaluate progression of the disease and its impact on co-mor...

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...

Background: An underestimated figure of 1,249 children with type 1 diabetes mellitus (T1DM) was diagnosed in Indonesia from 2017 to 2019. In 2021, there were around 0.05 paediatricians per 1,000 children in Indonesia. Only 1.2% (n=54) were pediatric endocrinologists practising in 17 out of 38 provinces populating urban areas in Indonesia. Therefore, Changing Diabetes in Children (CDiC) Indonesia, a public-private partnership, has delivered training fo...

Introduction: The ESPE e-learning web-portal (www.espe-elearning.org) was developed to address gaps in education in pediatric endocrinology and diabetes and was first published online in 2012. Since then, it has been utilized in different settings and applications. Here, we present its utilization in a series of e-learning and e-consultation webinars in collaboration with the Indonesian Pediatric Society (IDAI- Ikatan Dokter Anak Indonesia).<p class="abste...

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...

Introduction: Physical growth according to genetic potential is a hallmark of childhood health [1]. Childhood growth is complex and the physiological processes involved in promoting healthy growth are not fully understood, including the gut microbiota. The gut microbiota matures from birth towards adulthood, and this process might be affected by several factors, including mode of delivery, food intake and antibiotic treatment. The bacterial gut microbiota is observed to be mor...

Background: Resistance to thyroid hormone (RTH) is a rare clinical syndrome characterized by end organ resistance due to mutations in the thyroid hormone receptor (THRB) gene. The combination of RTH and congenital hypothyroidism (associated with thyroid agenesis or ectopic gland) has been reported in at least 6 genetically proven cases.Case report: We report an 8-year-old girl, diagnosed with congenital hypothyroidism at...