hrp0092p1-92 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Rare Case of Pseudoisodicentric X Chromosome in a Patient with Primary Amenorrhoea

Schipper Saskia , Aarts Coranne , van der Linde Annelieke

Background: Pseudoisodicentric X chromosomes with an Xq deletion (46,X,idic(Xq)) are rare. Most cases are mosaic, the other cell line being 45,X. Nonmosaicism is rare. Phenotype is characterized by the resultant of the X deletion. Variations from short to tall stature can occur and premature ovarian failure is a common feature.Case presentation: A 16 year old girl was referred to our clinic with primary amenorrhoea. She ...

hrp0086p2-p391 | Gonads & DSD P2 | ESPE2016

Sertoli-Leydig Cell Tumor as a Rare Cause of Hirsutism in a Young Adolescent

van der Straaten Saskia , Merckx Mireille , Van Dorpe Jo , Goethals Inge , Bordon Victoria , Timmers Philippe , De Schepper Jean

Background: Sertoli-Leydig Cell Tumors (SLCT) account only for 1% of all ovarian neoplasia, occur more commonly in the second or third decade of life and seldom secrete tumor markers. The experience in adolescence is limited.Objective and hypothesis: To report the hormonal and biological profile of a SCLT in a young adolescent. Ovarian tumor markers as well as FDG-PET scanning might be helpful in diagnosing ovarian malignancy in case of normal ultrasound...

hrp0082p2-d3-477 | Hypoglycaemia | ESPE2014

Opioid-Induced Endocrinopathy in a Toddler with Chronic Codeine Intoxication

Van Aken Sara , Van Der Straaten Saskia , De Waele Kathleen , Cools Martine , Craen Margarita , De Schepper Jean

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

hrp0086p2-p863 | Syndromes: Mechanisms and Management P2 | ESPE2016

Quality of Life in Growth Hormone Treated Children and Adolescents with Growth Hormone Deficiency and Smallness for Gestational Age

De Schepper Jean , Van der Straaten Saskia , Reynaert Nele , France Annick , Gies Inge , Parent Anne-Simon , Beauloye Veronique , Massa Guy , Beckers Dominique , Heinrichs Claudine , Logghe Karl , Depoorter Sylvia , Thomas Murielle , Verlinde Franciska , Vanderfaeillie Johan

Background: The potential benefit of growth hormone (GH) therapy on health-related QOL (HQoL) of children with short stature related to GH deficiency (GHD) or smallness for gestational age (SGA) has not been well documented.Objective and hypotheses: Our objective was to assess potential disease and treatment related predictors for a poor HQoL in GH treated children. Children with male gender, SGA disorder, greater height deficit at start of GH and poor h...

hrp0095rfc10.2 | GH and IGFs | ESPE2022

Severe primary IGF1 deficiency diagnosed by a standardized IGF1/ IGFBP3 generation test : the Belgian experience

Ryckx Sofie , Derycke Christine , Anckaert Ellen , Beauloye Véronique , Beckers Dominique , Brachet Cécile , Den Brinker Marieke , De Waele Kathleen , Dotremont Hilde , Boros Emese , Klink Daniel , Lebrethon Marie-Christine , Lysy Philippe , Mouraux Thierry , Parent Anne-Simone , Rochtus Ann , van der Straaten Saskia , De Schepper Jean

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...

hrp0094p2-260 | Growth hormone and IGFs | ESPE2021

Current growth hormone therapy practices in Belgium for the treatment of short children born small for gestational age

Thomas Muriel , Casteels Kristina , Rochtus Anne , van der Straaten Saskia , Van Aken Sara) , Fudvoye Julie , Boros Emese , Dotremont Hilde , Vanbesien Jesse , Mouraux Thierry , Chivu Olimpia , Logghe Karl , Reynaert Nele , Massa Guy , Depoorter Sylvia , Klink Daniel , Becker Marianne , Lysy Philippe , De Schepper Jean ,

Background and Aim: Recombinant growth hormone (GH) is reimbursed for the treatment of short stature (<-2.5 Z-score) in children born small for gestational age (SGA) without postnatal growth, aged ≥ 4 years with a height Z-score >1 below mid-parental height (MPH). We wanted to determine the current GH prescribing practices by pediatric endocrinologists (PE) for SGA related short stature and document the percentages of treated children at risk for...

hrp0092rfc8.6 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Growth, Pubertal Course and Long-Term Outcome of 46,XY Boys Born with Atypical Genitalia and Low Birthweight

Tack Lloyd , Straaten Saskia van der , Cools Martine , consortium On behalf of the I-DSD

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

hrp0084fc7.4 | Growth-promoting therapies | ESPE2015

A Novel Reversible Albumin-Binding GH Derivative Possesses a Promising Once-Weekly Treatment Profile in Children with GH Deficiency

Zuckerman-Levin Nehama , Gucev Zoran , de Schepper Jean , Rasmussen Michael Hojby , Battelino Tadej , Olsen Minna Braendholt , Savendahl Lars

Background: GH administration restores normal growth in children with GH deficiency (GHD). However, current daily s.c. injection treatment regimens may be inconvenient leading to impaired adherence and subsequently suboptimal treatment outcomes. NNC0195-0092 is a novel, reversible albumin-binding GH developed for once-weekly administration.Objective and hypotheses: This was a randomised, open-label, active-controlled, dose-escalation trial (NCT01973244) ...

hrp0089wg7.1 | ESPE Paediatric Endocrine Nurse Specialists and Allied Health Professionals Working Group (PENS) | ESPE2018

Advanced Anthropometrics in Pediatric Endocrinology: Utility and Difficulty

De Schepper Jean

Anthropometrics is an important part of pediatrics and public health. Its non-invasiveness, simplicity and low cost makes anthropometry attractive for several purposes. It is a valuable method for the screening or assessment of growth disorders, as well as under- and over-nutrition. Furthermore, specific anthropometric measures can be used as indicators of general fitness or cardiovascular risk factors (insulin resistance and dyslipidemia) in (obese) children, as well as marke...

hrp0095lb20 | Late Breaking | ESPE2022

A Structured Education Program on Hormonal Control and Quality of Life in Congenital Adrenal Hyperplasia: a study in Indonesia

Utari Agustini , Ediati Annastasia , Zulfa Juniarto Achmad , Dewi Ariani Mahayu , Mostert Saskia , Neni Sitaresmi Mei , E Van Herwaarden Antonius , LS Drop Stenvert , L Claahsen-van der Grinten Hedi , MH Faradz Sultana

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...