ESPE Abstracts

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

Background: Kenny–Caffey syndrome 2 (KCS 2) is a rare cause of hypoparathyroidism, characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular long bones, delayed closure of anterior fontanel and eye abnormalities.Objective: We report the case of a 4-years’-old boy, who presented with the characteristic, and newly identified clinical, biochemical, radiological and genet...

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

Background: Hereditary syndromic endocrine tumours are associated with significant morbidity in the paediatric population. Advances in molecular genetics enable early cascade genetic testing with early initiation of tumour screening. Controversy exists around the start age and burdens arising from screening-related harms.Objective: To describe the efficiency of the screening program for paediatric patients with genetic r...

Introduction: MIRAGE syndrome (Myelodysplasia, Infections, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy, OMIM# 617053), is a congenital disorder caused by heterozygous gain of function mutations in the growth repressor gene SAMD9, inherited autosomal dominantly, although de novo variants are often reported. The syndrome was first described in 2016 and to date various cases have been reported, presenting a wide sp...

Background: Achondroplasia (ACH) is an autosomal dominant condition, resulting from pathogenic missense FGFR3 (fibroblast-growth-factor receptor-3) variants. Foramen magnum stenosis (FMS) is a severe complication, with infants and younger children being at higher risk. FMS may be asymptomatic or cause cervical-medullary compression (CMC), presenting with hydrocephalus, hypotonia or hypertonia, central sleep apnea and sudden death. The scope of the stu...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a cause of primary adrenocortical insufficiency. It is associated with accumulation of very long chain fatty acids (VLCFA), due to peroxisome dysfunction. X-ALD is caused by pathogenic variants of the ABCD1, which encodes an ATP-binding cassette transport protein, and is inherited in X-linked recessive mode. There is no known genotype-phenotype correlation, and the degree of VLCFA elevation does n...

Introduction: Gestational diabetes mellitus (GDM) is often accompanied by gut dysbiosis, which typically includes a decrease in short chain fatty acid (SCFA)-producing genera. Maternal SCFAs have been found to influence placental immunometabolism and fetal development. The aims of this study were: a) to investigate the associations between maternal and fetal (cord blood-umbilical artery) SCFA levels and offspring anthropometry during the first year of life in ...

Background: There has been a secular increase in Precocious puberty in recent years. We have also seen an increase in referrals and confirmed cases of precocious puberty in our clinics. The suspected cased underwent a Gonadotrophin Releasing Hormone (GnRH) test (GnRH) The initiation of therapy is discussed with tertiary endocrinologist colleagues, but the treatment has been delivered locally. We have recently discussed with colleagues from pharmacy aspects rel...

Introduction: /Purpose: Graves' disease is the most common cause of hyperthyroidism in children and adolescents. It is an autoimmune disorder characterized by stimulating autoantibodies, leading to increased thyroid hormone release and thyrotoxicosis. Early initiation and long-term treatment, remission, and definitive treatment with thyroidectomy or radioactive iodine present a challenge. This study aims to record the data of patients with Graves' disease foll...