ESPE Abstracts

Gynecomastia is a well-known effect of treatment with op’-DDD in male adults. Metrorragia in young girls is a less known effect because only a few children receive this drug, mostly for bad prognosis adrenocortical carcinoma. Moreover, it has been reported that op’DDD causes precocious puberty, but cases are not well documented. We report 2 cases of young girls receiving high-dose op’-DDD who presented recurrent metrorragia. Case 1: An 18 month old girl was diag...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: The diagnosis, treatment, and management of growth disorders can have a substantial burden on patients and caregivers. Research was conducted with patient experts to understand challenges experienced by patients with growth disorders and their caregivers, and identify opportunities to improve care.Methods: A mixed-methods approach was used to obtain insights from patient experts between October 2022-January 2...

Background: Hyperinsulinism is characterised by inappropriate insulin secretion during hypoglycaemia. Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of persistent congenital hyperinsulinism. The diagnosis of KATP hyperinsulinism is key for the clinical management of the condition.Aim: We aimed to determine the clinical features that help to identify KATP hyperinsulinism...

Background: Congenital hyperinsulinism (HI) is characterised by inappropriate insulin secretion despite low blood glucose which is commonly diagnosed in infancy (before the age of 12 months). Screening of the >20 known genes identifies a mutation in over 45% of cases. The likelihood of identifying a mutation in a known gene in individuals diagnosed after 12 months is not currently known.Aim: We aimed to identify the ...

Vitamin D dependency rickets type 1B (VDDR-1B) is a rare condition classified as rickets due to inadequate 25-hydroxylation of vitamin D. In this study, we describe rickets and loss-of-function CYP2R1 mutations in 6/10 individuals tested from two unrelated families. Five patients in family 1 (F1) have homozygous L99P mutations; while one member of family 2 (F2) has novel homozygous mutations at G42_L46del insR. The mutations, as well as another variant M248I found in ...

Background: Survivors of childhood cancer are at increased risk of cardiovascular morbidity and mortality in later life. Although the brain is known to be involved in control of metabolic functions including appetite regulation and energy expenditure (1), little data are available relating to the risk of metabolic dysfunction secondary to cerebral injury. Several studies have attempted to investigate the impact of exercise on physical and psychosocial parameters in survivors o...

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...