hrp0094p2-490 | Thyroid | ESPE2021

Thyroid dyshormonogenesis: a case report of two siblings with a heterozygous variant in the TPO gene.

Vadina Tatiana , Konushova Marina , Eremyan Aikaz , Shreder Ekaterina , Nagaeva Elena , Zaharova Svetlana , Degtyarev Michael , Bezlepkina Olga

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

hrp0094p2-103 | Diabetes and insulin | ESPE2021

Diabetes in a child with infantile onset multisystem neurological, endocrine and pancreatic disease (IMNEPD)

Becker Marianne , Seneca Sara , Schierloh Ulrike , Witsch Michael , de Beaufort Carine , Scalais Emmanuel ,

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

hrp0097t19 | Section | ESPE2023

Pre-treatment Blood Transcriptome Predicts Growth Response to Somapacitan Treatment in Children Born Small for Gestational Age

Garner Terence , Clayton Peter , Højby Rasmussen Michael , Murray Philip , Stevens Adam

Treating short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that are burdensome for patients and caregivers. Results from REAL5 (ongoing randomised, multinational, open-label, controlled, dose-finding phase 2 trial; NCT03878446) indicate that somapacitan (0.24 mg/kg/week) has an efficacy, safety, and tolerability profile similar to daily GH (0.067 mg/kg/day) after 52 weeks of treatment in children born SGA. Predicting G...

hrp0097p1-280 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

The Metabolism of 11-Oxy Androgens by Fetal CYP3A7 and CYP3A4 is Less Efficient Compared to Classical Androgens

du Toit Therina , E Flück Christa , V Pandey Amit , Groessl Michael

Steroidogenic enzyme expression in the fetal adrenal and the placenta hints at the production and metabolism of adrenal-derived 11-oxy androgens (11OxyAs) in the fetal-placental unit. Thus, 11OxyAs are present in placental tissue, fetal cord blood and neonatal serum, and could have a particular role during fetal development. The metabolism of the 11OxyAs in the fetal unit, therefore, presents as a focal point of investigation. Adrenal androgens are primarily metabolized by the...

hrp0097p1-320 | Growth and Syndromes | ESPE2023

Achondroplasia: a novel deep intronic variant of the FGFR3 gene, c.1075 + 95C>G, disrupts mRNA splicing

Hogeabri Dorna , Schwarz Stephanie , Oehl-Jaschkowitz Barbara , Gawai Monika , Zemlin Michael , Rohrer Tilman

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

hrp0098fc15.1 | Late Breaking | ESPE2024

Response to Daily and Weekly Recombinant Human Growth Hormone Treatment in Children Born Small for Gestational Age is Predicted More Accurately by Pre-treatment Blood Transcriptome than Clinical Variables

Garner Terence , Murray Philip , Højby Michael , Ard Ryan , Clayton Peter , Stevens Adam

Background: `(LAGHs) are under investigation to treat SGA. Results from the REAL5 phase 2 trial (randomised, multinational, open-label; NCT03878446) indicate that the LAGH somapacitan has similar efficacy, safety, and tolerability profile as daily GH1. Predicting GH therapy response is critical to improve clinical management of short stature. Here, we compare the prediction of growth response in SGA children treated with daily GH or somapacitan based on ...

hrp0098p1-254 | Growth and Syndromes 3 | ESPE2024

Growth Response to Medical Intervention in an Observational Real-life Study of Children with Growth Delay: A Causal Inference Method

Gjoertz Mathea , Rybak Alexis , Picco Alessio , Sauser Julien , Hauschild Michael , BUSIAH Kanetee

Background: Growth delay is a common cause of consultation in pediatric practice and can be an early indicator of an underlying pathological process. As aetiological treatments (hormone therapy, special diets, etc.) have been routinely available for decades, it has become ethically challenging to conduct prospective randomised trials to test the efficacy of updated clinical approaches.Objectives: To assess the influence ...

hrp0098p2-156 | GH and IGFs | ESPE2024

Dosage of recombinant human growth hormone across geographic regions at enrolment into the Kabi/Pfizer International Growth Study (KIGS)

Geffner Mitchell , Thomas Marc , Cutfield Wayne , Gomez Roy , Tanaka Toshiaki , Carlsson Martin , Wajnrajch Michael

Objectives: The Kabi/Pfizer International Growth Study (KIGS) was the largest and longest running international database of pediatric patients receiving recombinant human growth hormone (rhGH). The objective of the current analysis is to describe the dosage of rhGH at enrolment into KIGS according to diagnosis and geographical region.Methods: Between 1987-2012, 83,803 pediatric patients were enrolled into KIGS if they re...

hrp0095p1-277 | Fat, Metabolism and Obesity | ESPE2022

The effect of obesity and nutritional intervention on depression levels and cognitive functions in adolescent girls, a randomized-controlled interventional study

Yalin Ofri , Fisch-Shvalb Naama , Yackobovitch-Gavan Michal , Bello Rachel , Demol Eliaz Sharon , Phillip Moshe , Meyerovitch Joseph

Background: Over the last thirty years, the incidence of adolescent obesity has quadrupled. While the physical risks of adolescent obesity have been well researched, there has been little research on its impact on mental health status and cognitive abilities. In the present study, we intend to examine whether nutritional intervention and weight loss affect executive functions and levels of depression of adolescent girls with overweight/obesity (OW/OB).<p c...

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

Florsheim Natan , Naugolny Larisa , Renbaum Paul , Lobel Orit , Y. Gold Merav , Goldberg Michal , Levy-Lahad Ephrat , Zangen David

Background: Severe Ovarian Dysgenesis (OD), a rare heterogeneous XX disorder of Sex Development presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel causes of OD, we study patients in which known genes have been excluded.Methods: Whole-exome-sequencing was performed in a 14.5y old Ashkenazi Jewish, non-cons...