hrp0092p1-86 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Extreme Short Stature and Poor Pubertal Growth: When FBN1 is the Culprit

Brachet Cécile , Boros Emese , Soblet Julie , Vilain Catheline , Heinrichs Claudine

Introduction: Very short stature is a common presenting complain that gives rise to numerous investigations. FBN1 heterozygous mutations cause acromelic dysplasia syndromes. The phenotypic spectrum of these growth disorders is broad, ranging from short stature with short extremities, stiff joints, skin thickening with tracheal stenosis and cardiac valvulopathy to nearly isolated short stature. Here, we report on a girl with disproportionate short stat...

hrp0092p2-237 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Heterozygous OTX2 Deletion in a Boy with Normal Eye Development and Normal Pituitary Function

Boros Emese , Boitsios Gramatina , Vilain Catheline , Balikova Irina , Heinrichs Claudine , Brachet Cécile

Introduction: Orthodenticle homeobox 2 (OTX2) is a transcription factor that plays a critical role in brain and eye development. Heterozygous deleterious mutations in this gene lead to eye malformation such as anophthalmia, microphthalmia, coloboma or optic nerve hypoplasia, normal or hypoplastic pituitary gland and normal or ectopic posterior pituitary gland with isolated growth hormone deficiency or combined pituitary hormone deficiency. There is no...

hrp0094p1-190 | Pituitary B | ESPE2021

Six novel variants in the MKRN3 gene causing central precocious puberty: characteristics of ten patients and their affected relatives

Gernay Caroline , Brachet Cecile , Tenoutasse Sylvie , Boros Emese , Libioulle Cecile , Heinrichs Claudine ,

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

hrp0082p2-d3-310 | Bone (2) | ESPE2014

Outcomes of Vitamin D Analogues and Phosphate Supplements in Patients With Hereditary Hypophosphatemic Rickets , Comparison With Non-Treated Patients

Boros Emese , Rothenbuhler Anya , Heinrichs Claudine , Brachet Cecile , Esterle Laure , Kamenicky Peter , Harvengt Pol , Brailly-Tabard Sylvie , Haidar Hazar , Gaucher Celine , Silve Caroline , Gossiome Charles , Wicart Philippe , Duplan Martin Biosse , Courson Frederic , Chaussain Catherine , Linglart Agnes

Background: Hereditary Hypophosphatemic Rickets (HHR) is caused by persistently elevated FGF23 resulting in renal phosphate wasting and decreased 25 vitamin D hydroxylation. Treatment with vitamin D analogues (VDA) has been added to phosphate supplements in the late seventies.Objective and hypotheses: Our objective was to evaluate the outcomes of VDA and phosphate supplements in adult patients with HHR in comparison with patients who did not receive VDA ...

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...

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...

hrp0086p1-p722 | Pituitary and Neuroendocrinology P1 | ESPE2016

Role of the Metabotropic mGlu5 Glutamate Receptor in the Initiation of Puberty and Reproduction in Female Mice

Inta Ioana , De Angelis Roberto , Domonkos Emese , Lankisch Katja , Boehm Ulrich , Gass Peter , Bettendorf Markus

Background: The neuroendocrine mechanisms of the initiation of puberty are still incompletely deciphered. Accumulating data indicate a main role of the glutamate system in regulating hypothalamic GnRH. However, the underlying neurobiological mechanisms are yet poorly investigated. Mice lacking metabotropic mGlu5 receptors (mGluR5) show sever unexplained infertility.Objective and hypotheses: We aimed in the present study to analyze the specific role of mG...