ESPE Abstracts

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

The aim of the lecture is to show the expectations and unmet needs of people affected by X-linked hypophosphatemia. As XLH is a rare disease, these patients face the same problems as most of other rare disease causes, but there are additional burdens in XLH, related to the specifics of the disorder. X-linked hypophosphatemia is a rare inherited metabolic bone disease, which can also be caused by a spontaneous mutation. There is an alteration in the Phex gene what leads to rena...

Background: There are no available guidelines on hormonal therapy to suppress menstruation in teenagers and young adults (TYA) undergoing chemotherapy.Objective and hypotheses: To review the use of LHRH analogues (LHRHa) (Leuprorelin (L)) or continuous progesterone (Norethisterone (N)) to defer menses in TYA undergoing chemotherapy in a single Institution and initiate guidance on its use.Method: Clinical notes of 27 TYA treated wit...

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

Background: Children suffering from chronic liver disease (CLD) may develop rickets, impaired bone mineralization and are exposed to an increased risk of osteoporotic fractures. Bisphosphonate (BP) is used in children to increase the bone density and reduce the fracture incidence. Up to date, no study showing the effect of this treatment in children suffering from CLD has been reported.Objective and hypotheses: Evaluate the effect of BPs in children with...

Background: Type 1 Diabetes Mellitus (T1DM) often coexists with other autoimmune diseases, either individually or as a part of polyendocrine syndrome (APS I-III). It is frequently associated with autoimmune thyroid, celiac, gastric and Addison’s disease. In the families with T1DM patients frequently coexist different autoimmune diseases (familial autoimmunity).Objective and hypotheses: Evaluating the frequency of associated and familial autoimmunity...

Background: Klinefelter syndrome (KS) is a male genetic disorder defined by the karyo type 47,XXY. Adult males with KS are at increased risk for osteoporosis, based on androgen deficiency. Androgen replacement is standard in adolescent and adults with KS, but has not been used earlier in childhood. We performed a clinical trial to study the effects of childhood, low-dose androgen replacement on bone density in boys with KS.Objective and hypotheses: To me...

Background: The assessment of bone age increments is important when monitoring treatment in many conditions in pediatric endocrinology. However, manual rating suffers from significant rater variability. Automated bone age assessment could provide increased precision, and also assess increments of bone health index (BHI) from the same X-rays.Objective and hypotheses: To assess the precision of automated assessment of increments of bone age and BHI.<p ...

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...