ESPE Abstracts

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

Background: The initiation of puberty is dependent upon an augmentation of gonadotropin-releasing hormone (GnRH) secretion from the hypothalamus. Development of the GnRH neuroendocrine network in embryonic life depends on coordinated migration of neurons from the vomeronasal organ in the nose to the forebrain. We have previously demonstrated that dysregulation in GnRH neuronal migration leads to delayed pubertal onset. Late puberty affects up to 2% of the ...

Background: The first three children reported to have biallelic mutations in RNPC3 presented with growth hormone (GH) deficiency and pituitary hypoplasia (MIM#618860). RNPC3 codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein formation and splicing of U12-type introns. The underlying mechanism causing GH deficiency in these patients is not fully understood. Moreover, whether the association of further ho...

Objective: Recent studies have suggested earlier onset of pubertal development in boys. As assessment with orchidometer tends to overestimate true testicular volume (TV), and measurements based on ultrasound (US) have been proposed as a more reliable method, we present US based references in 6-16 year-old Norwegian boys. Our results are compared with data from Europe and the United States (U.S.) in order to establish evidence for an ongoing secular trend in ma...

Introduction: Recombinant Growth Hormone (GH) has changed the lives of many patients with Prader-Willi Syndrome (PWS). GH treatment has beneficial effects on body composition, physical performance, cognition, psychomotor development, respiratory function and quality of life of patients with PWS. Due to the narrow therapeutic range, GH treatment is subject to strict limits. Clinicians measure serum immunoreactive Insulin-like Growth Factor 1 ('total IGF-I&#...

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

Introduction: Thyroid dysfunction may cause a wide range of neurological disorders in children. Hypothyroidism is associated with peripheral nerve demyelination. However, minimal data are available in pediatric population.Purpose: To describe a case of newly diagnosed Hashimoto thyroiditis (HT) suffering acute-onset rapidly progressive peripheral polyneuropathy.Case Report: A 12-ye...