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...

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-p391 | Gonads &amp; 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...

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...

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 ...

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...

hrp0089p1-p224 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

The ‘ExternalGenitaliaScore’ to Describe External Genitalia in Male and Female Infants: A Europeanmulticenter Validation Study

van der Straaten Saskia , Springer Alexander , Hebenstreit Doris , Zezic Aleksandra , Tonnhofer Ursula , Gawlik Aneta , Baumert Malgorzata , Szeliga Kamila , Debulpaep Sara , Desloovere An , Tack Lloyd , Smets Koen , Wasniewska Malgorzata , Corica Domenico , Calafiore Mariarosa Calafiore , Ljubicic Marie Lindhardt , Busch Alexander Siegfried , Juul Anders , Nordenstrom Anna , Sigurdsson Jon , Fluck Christa E , Haamberg Tanja , Graf Stefanie , Hannema Sabine E , Wolffenbuttel Katja P , Ahmed S Faisal , Cools Martine

Background: The ‘External Masculinization Score’ (EMS) is an objective method of scoring undervirilized genitalia in infants but may require further adaptation to capture the appearance of the genitalia more comprehensively across the phenotypic spectrum.Objective: To develop and validate a non-binary, standardized score that describes the range of appearance of external genitalia.Method: The external genitalia score (EGS...

hrp0094p1-45 | Sex Endocrinology and Gonads A | ESPE2021

Bilateral testicular regression: genetic etiology and outcome in a large Belgian series

Tack Lloyd , Brachet Cecile , Heinrichs Claudine , Boros Emese , De Waele Kathleen , Straaten Saskia vander , Aken Sara Van , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...

hrp0092p3-252 | Thyroid | ESPE2019

An Unusual Presentation of Hypothyridism: Van Wyk-Grumbach Syndrome

Gargouri Imen , Hadjkacem Faten , Safi Wajdi , Ben Othman Wafa , Charfi Nadia , Rekik Nabila , Mnif Mouna , Abid Mohamed

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

hrp0089mte5.1 | Gonadal function in congenital adrenal hyperplasia (CAH) | ESPE2018

Gonadal Function in Congenital Adrenal Hyperplasia (CAH)

Claahsen - van der Grinten Hedi

Congenital adrenal hyperplasia (CAH) is a group of rare congenital disorders of the adrenal cortex due to a defect in one of the enzymes involved in steroid synthesis leading to cortisol deficiency and overproduction of adrenal androgens. In the most severe forms CAH is a life threatening disease due to the risk of Addisonian and salt wasting crisis. In the last 50 years diagnostics and treatment improved significantly. Patients are treated with lifelong replacement of glucoco...