ESPE Abstracts

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 ...

Introduction: Duplications of SOX3 at Xq27.1 are known to be associated with a spectrum of midline defects, isolated/multiple pituitary hormone deficiencies and learning difficulties. We report 5 cases of SOX3 duplication with hypopituitarism and differing presentations. 1)Male neonate presented with poor feeding and prolonged jaundice. Investigations revealed central hypothyroidism and inadequate cortisol response to Synacthen. Appropriate hormone replacemen...

Introduction: Mutations of the PLS3 gene (MIM 300910), encoding plastin 3, are an extremely rare cause of osteogenesis imperfecta (OI). It has an X-linked inheritance and is characterized by early-onset osteoporosis and kyphosis, which can cause compression fractures, especially in the thoracic vertebrae. Although there are reports showing that bisphosphonates are effective in improving the bone mineral density of patients with PLS3 variants,...

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

Background: The assessment of childhood obesity involves rational use of diagnostic tests in individuals with physiological causes while not missing pathologies. We have developed obesity interpreter, a mobile application that provides individualized guidance regarding the workup of children and adolescents.Aim: To validate the diagnostic accuracy of mobile application in the evaluation of children and adolescents with o...

Background: Assessment of pubertal disorders is challenging for the pediatricians causing unnecessary evaluation on one hand while missing pathology on the other. The paucity of pediatric endocrine centers further adds to the problem in resource poor settings. We have developed puberty interpreter, a mobile application that provides instantaneous guidance regarding diagnosis and management of children and adolescents with concern for pubertal disorders based o...

Introduction: Primary ovarian failure (POF) is traditionally defined as cessation of menstruation prior to 40 yr of age and diagnosis is confirmed by elevated serum FSH levels (often above 40 IU/L). It is known that 0.1% of the population is affected with POF before age 30 yr. Here, we report a case with POF, who presented wit tall stature due to structural abnormalities in X chromosome.Case Report: A 13.5 year-old-adole...

Background: Over the last 25 years more than 410 cases with suspected Familial Glucocorticoid Deficiency (FGD) have been referred to our centre for genetic testing. All cases had low or undetectable serum cortisol paired with an elevated plasma ACTH level. Our patient cohort comprises 352 families from 30 different nationalities and ranges from neonates to patients in their eighties. Mutations in the MC2R were first discovered as causative of FGD in 1...

Objectives: Limited information is available on how very young children with growth hormone deficiency (GHD) respond to growth hormone (GH) replacement. We compared response to 1 year of GH therapy in children aged <2 years and prepubertal children aged ≥2 years.Methods: The two non-interventional, multicentre studies, NordiNet® International Outcome Study (IOS) (NCT00960128) and the ANSWER Prog...

Background: Adrenal insufficiency (AI) is a rare disorder in the paediatric population. Patients are at risk of an adrenal crisis (AC), which comprises hypotension, acute abdominal symptoms, reduced consciousness, hypoglycaemia, hyperkalaemia and hyponatremia. Immediate administration of parenteral hydrocortisone is essential to prevent AC progression but delays may occur when health attendants are unaware of the underlying AI diagnosis. Medical jewellery is a...