hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

hrp0084fc5.3 | Endocrine Oncology/Turner | ESPE2015

Screening in Children with Succinate Dehydrogenase B (SDHB) Mutations: a Single Centre’s Family Clinic Experience

Shapiro Lucy , Srirangalingam Umasuthan , McAndrew Lorraine , Martin Lee , Tufton Nicola , Kumar Ajith , Drake William , Akker Scott , Storr Helen

Background: Germline mutations in SDHB gene are associated with the familial paraganglioma (PGL) syndrome that carries the highest malignant potential. Although penetrance is lower than initially described, lack of effective treatments for metastatic PGLs makes screening essential for early tumour detection, surgical removal and improved outcome. However, no consensus exists in relation to timing and mode of screening.Objective: To assess publis...

hrp0089fc1.6 | Adrenals & HPA Axis | ESPE2018

A Novel Stem Cell Model for the Triple A Syndrome

Da Costa Alexandra Rodrigues , Qarin Shamma , Bradshaw Teisha Y. , Watson David , Prasad Rathi , Barnes Michael R. , Metherell Louise A. , Chapple J. Paul , Skarnes William C. , Storr Helen L.

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

hrp0089fc8.2 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Partial Restoration of Biological Effects of Estrogen in a Female with Estrogen Receptor α Variant

Feigerlova Eva , Laurell Henrik , Mittre Herve , Kottler Marie-Laure , Deshayes Marc , Balaguer Patrick , Bourget William , Arnal Jean-Francois , Marechaud Richard , Hadjadj Samy , Gourdy Pierre

Introduction: Rare mutations of the ESR1gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. To date, there are no effective therapeutic options. We report the case of a new inactivating mutation of ERα and provide evidence for a partial restoration of biological effects of estrogen.Methods: We performed clinical and biological phenotyping of the index case and sequenced the ESR1...

hrp0089p1-p015 | Adrenals and HPA Axis P1 | ESPE2018

New Insights into Low Dose Dexamethasone Suppression Test in Paediatric Cushing’s Syndrome

Wilkinson Ingrid C E , Martin Lee , Grossman Ashley B , Monson John P , Akker Scott , Savage Martin O , Drake William M , Storr Helen L

Background: The Low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s Syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l during the LDDST (0.5 mg 6 hrly × 48 h) comes from a time when biochemical autoanalysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s Disease (CD) suppressed to <50 nmol/l at 48 ...

hrp0084p2-183 | Adrenals | ESPE2015

24-H Urinary Free Cortisol as a Screening Test for Cushing’s Syndrome in Children

Shapiro Lucy , Elahi Shezan , Baliey Joe , Perry Les , Martin Lee , Grossman Ashley , Akker Scott , Monson John , Drake William , Savage Martin , Storr Helen

Background: Cushing’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0086ha2 | BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration | ESPE2016

BOREALIN Mutations in Thyroid Dysgenesis Reveal a New Function of this Protein in Cell Adhesion and Migration

Carre Aurore , Stoupa Athanasia , Karyiawasam Dulanjalee , Gueriouz Manelle , Ramond Cyrille , Gaujoux Sebastien , Glaser Nicolas , Leger Juliane , Zenaty Delphine , Nitschke Patrick , Bole-Feysot Christine , Parisot Melanie , Hubert Laurence , Scharfmann Raphael , Munnich Arnold , Besmond Claude , Taylor William , Polak Michel

Background: Congenital hypothyroidism is primarily due to thyroid dysgenesis (TD). The genes implicated in TD, account for a small number of patients with monogenic forms, less than 5%. Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis.Objective and hypotheses: To understand the role of Borealin mutations found in patients with TD.Method: We performed whole exome sequencing (WES) ...

hrp0082p2-d3-494 | Endocrine Oncology | ESPE2014

Three Year Experience of a National Interdisciplinary Initiative to Improve Outcomes for Children with Hypothalamic Pituitary Axis Tumours (HPATs) Using Multi-site Videoconferencing for Decision Making on Behalf of the UK HPAT Interest Group

Perelberg Daniel , Morillon Paul , Ederies Ash , Aquilina Kristan , Dorward Neil , Michalski Anton , Hargrave Darren , Chang Yen-Ching , Bozorgi Nillofar , James Samantha , Korbonits Marta , Drake William , Akker Scott , Mallucci Connor , Pizer Barry , Blair Jo , Kamaly Ian , Clayton Peter , Spoudeas Helen

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...