hrp0097fc4.3 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Punt Lauren , Kooijman Sander , van der Kaay Danielle , van Tellingen Vera , Bakker - van Waarde Willie , Boot Annemieke , van den Akker Erica , van Boekholt Anneke , van Duyvenvoorde Hermine , van Nieuwaal - Van Maren Nancy , Woltering Claire , Heijligers Malou , van der Heyden Josine , Bannink Ellen , Losekoot Monique , de Bruin Christiaan , Maarten Wit Jan , Joustra Sjoerd

Introduction: Ghrelin binds to its receptor GHSR1A, encoded by GHSR, on somatotrophs of the pituitary. Growth hormone (GH) secretion is enhanced by ghrelin binding as well as the receptor’s constitutive activity. Results from in vitro experiments, knock-out mice, and GWAS suggest that heterozygous loss-of-function of GHSR may be associated with short stature, but observations in case studies are equivocal. We aimed to better ch...

hrp0097p1-318 | Growth and Syndromes | ESPE2023

15-year experience with the IGF1 generation test in the Netherlands

Kruijsen Anne , de Groote Kirsten , Punt Lauren , van Trotsenburg Paul , Pijnenburg-Kleizen Karijn , Bocco Gianni , Berkenbosch Lizanne , van Setten Petra , Claahsen - van der Grinten Hedi , van der Kaay Danielle , Schott Nina , van Tellingen Vera , van Mill Edgar , van der Heyden Josine , Brandsma Annelies , Hendriks Yvonne , Losekoot Monique , van Duyvenvoorde Hermine , Hokken-Koelega Anita , Renes Judith , Maarten Wit Jan , de Bruin Christiaan , Joustra Sjoerd

Introduction: Among children with short stature, some show persistent IGF-I levels <-2.0 SDS despite a normal growth hormone (GH) response in a stimulation test. This may be caused by conditions that could benefit from recombinant human GH (rhGH) therapy (e.g. GH neurosecretory dysfunction, bioinactive GH, partial GH insensitivity). Therefore, the IGF-I generation test (IGFIGT) was implemented in 2006 using a national, standardized protocol. Children with a...

hrp0094p2-445 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Could intramuscular testosterone differentiate between partial androgen insensitivity and 5 alpha reductase type 2 deficiency?

Raafat Shaymaa , Waheeb Saber

Introduction: Disorders of sex development are challenging conditions for patients, parents and the interdisciplinary health care team. Sex assignment of these patients needs optimal hormonal profile and molecular diagnosis. This study aimed at finding a new tool for differentiation between partial androgen insensitivity and 5 alpha reductase deficiency especially when the molecular diagnosis is unavailable or highly expensive if available.Methods and Su...

hrp0094p2-384 | Pituitary, neuroendocrinology and puberty | ESPE2021

Basal LH as a screening test for diagnosis of central precocious puberty

Raafat Shaymaa , Abdelmeguid Yasmine , Fawzy Dina ,

Introduction: Central precocious puberty (CPP) refers to the development of secondary sex characteristics before ages 8 and 9 years in girls and boys, respectively. It is either due to organic brain lesion or idiopathic. Conventionally, Gonadotropin Releasing Hormone (GnRH) stimulation test is a mainstay tool for diagnosis of central precocious puberty in pediatrics. However, it is time consuming and expensive. Therefore, this study was aiming to find an alter...

hrp0086p2-p975 | Thyroid P2 | ESPE2016

Beta Thallassemia: the Relation between Ferritin and Hypothyroisdism and the Suppressing Effect of Ferritin on Autoimmune Disorders (a Hypothesis)

Dalili Setila , Koohmanaee Shahin

Background: Thallassemia is a genetic disease with recessive autosomal pattern of inheritance which occurs as a result of disorders in hemoglobin structure clinicians assess endocrine function in patients with thallassemia in various intervals and distinguishing appropriate time for assessment can decrease the mentioned complications and promote their health, we aimed to investigate the prevalence of hypothyroidism and the relation between thyroid hormones and ferritin in pati...

hrp0094p2-309 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity

Kodytkova Aneta , El Lababidi Eva , Čermakova Ivana , Černa Jana , Čižek Jindřich , Dvořakova Marcela , Kalvachova Božena , Magnova Olga , Neumann David , Novotna Dana , Obermannova Barbora , Plašilova Ivana , Pomahačova Renata , Průhova Štěpanka , Strnadel Jiři , Škvor Jaroslav , Šnajderova Marta , Šumnik Zdeněk , Zapletalova Jiřina , Kusalova Kateřina , Šilar Jiři , Kolouškova Stanislava , Zemkova Daniela , Lebl Jan ,

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...

hrp0095p1-388 | Thyroid | ESPE2022

Next Generation Sequencing Analysis of Congenital Hypothyroidism Patients in A Single Tertiary Center

Park Jisun , Kim Sujin , Lee Jieun

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...

hrp0089fc2.4 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Diagnostic Performance of Artificial Neural Network-based TW3 Skeletal Maturity Assessment

Zhou Xuelian , Fu Junfen , Dong Guanping , Wu Wei , Huang Ke , Ni Yan , LIN Qiang , Liu Lanxuan , Ni Hao , Lai Can

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

hrp0086rfc15.7 | Late Breaking | ESPE2016

Long-Term Safety and Effectiveness of Daily and Weekly Growth Hormone Treatment in Pediatric GHD Patients (4-Years’ Results)

Chung Sochung , Hwang Il Tae , Rhie Young Jun , Kim Jae Hyun , Chae Hyun-Wook , Choi Jin Ho , Yoo Jae-ho , Shin Choong Ho

Background: The weekly sustained-release growth hormone (GH) has been approved for treatment in growth hormone deficiency (GHD). It provides a practical strategy for improving adherence.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin®) and weekly (EutropinPlus®) GH in Korean pediatric GHD patients.Method: A multicenter, long-term, pr...

hrp0086p2-p675 | Growth P2 | ESPE2016

The Effects and Safety of Recombinant Human GH (rhGH) Treatment on Growth Hormone Deficiency in Children with Rathke’s Cleft Cyst

Liyang Liang , Zhe Meng , Lina Zhang , Hui OU , Lele Hou , Zulin Liu

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...