hrp0082p1-d2-38 | Bone | ESPE2014

Increased Rates of Infantile Hypercalcaemia Following Guidelines for Antenatal Vitamin D3 Supplementation

Amato Lisa A , Neville Kristen A , Hameed Shihab , Quek Wei Shern , Verge Charles F , Woodhead Helen J , White Chris P , Horvath Andrea Rita , Walker Jan L

Background: Consultations for infantile hypercalcaemia have increased at Sydney Children’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...

hrp0082p1-d3-198 | Pituitary | ESPE2014

Spatial and Temporal Expression of Immunoglobulin Superfamily Member 1 in the Rat

Joustra Sjoerd , Meijer Onno , Oostdijk Wilma , Heinen Charlotte , Mol Isabel , Carreno Gabriela , Bernard Daniel , Biermasz Nienk , van Pelt Ans , Hamer Geert , Wit Jan Maarten , Wagenaar Gerry

Background: Loss-of-function of immunoglobulin superfamily member 1 (IGSF1) results in an X-linked syndrome of central hypothyroidism and macroorchidism, variable prolactin deficiency, GH deficiency, increased fat percentage, and delayed puberty testosterone rise despite normal timing of testicular growth.Methods: We investigated the spatial and temporal expression of IGSF1 at the protein and mRNA levels in fetal, neonatal, and adult Wistar rats, using i...

hrp0082p1-d2-217 | Reproduction (1) | ESPE2014

Reference Charts for Testicular Volume in Dutch Children and Adolescents

Joustra Sjoerd , van der Plas Evelyn , Goede Joery , Oostdijk Wilma , Delemarre - Van de Waal Henriette , Hack Wilfried , van Buuren Stef , Maarten Wit Jan

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

hrp0084fc8.4 | Obesity - Basic | ESPE2015

Severe Early-Onset Obesity Caused By Bioinactive Leptin due to a N103K Mutation

Wabitsch Martin , Funcke Jan-Bernd , von Schnurbein Julia , Denzer Friederike , Lahr Georgia , Denzer Christian , Moss Anja , Debatin Klaus-Michael , Gierschik Peter , Farooqi Sadaf , Moepps Barbara , Fischer-Posovszky Pamela

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...

hrp0084p1-81 | Growth Hormone | ESPE2015

The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

Donze Stephany , Meijer Caroline , Kant Sarina , Zandwijken Gladys , van der Hout Annemieke , van Spaendonk Resie , van den Ouweland Ans , Wit Jan Maarten , Losekoot Monique , Oostdijk Wilma

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

hrp0084p2-511 | Pituitary | ESPE2015

Pituitary Hormone Secretion Profiles in IGSF1 Deficiency Syndrome

Joustra Sjoerd , Roelfsema Ferdinand , Endert Eric , Ballieux Bart , van Trotsenburg Paul , Fliers Erik , Corssmit Noortje , Bernard Daniel , Oostdijk Wilma , Wit Jan Maarten , Pereira Alberto , Biermasz Nienke

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

hrp0094p2-308 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Evidence that non-syndromic familial tall stature has an oligogenic origin including ciliary genes

Weiss Birgit , Eberle Birgit , Roeth Ralph , de Bruin Christiaan , Lui Julian C , Paramasivam Nagarajan , Hinderhofer Katrin , van Duyvenvoorde Hermine A , Baron Jeffrey , Wit Jan M , Rappold Gudrun A ,

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

hrp0095p1-181 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Monoallelic variants in Myelin Regulatory Factor (MYRF) associated with 46,XY DSD – two cases and first report of inheritance through parental mosaicism

Kaninde Abhidhamma , Chandran Harish , McCarthy Liam , Ghose Arun , Ellis David , Fulton Piers , Vogt Julie , Igbokwe Rebecca , Jeremy Kirk Jeremy , Mohammed Zainaba , Idkowiak Jan

Background: Haplo-insufficiency of the Myelin-Regulatory Factor (MYRF) gene causes cardiac-urogenital syndrome (CUGS) and Differences in Sexual Development (DSD) in 46,XY and 46,XX (OMIM #618280). The gene product, a transcription factor, is involved in development of Coelomic epithelium derived cells, and likely causative for DSD. To date, only a few MYRF de novo variants are reported in children with DSD and associated CUGS symptoms.<s...

hrp0082fc3.5 | Diabetes | ESPE2014

Pancreatic N-Methyl-D-Aspartate Receptors as Novel Drug Targets for The Treatment of Diabetes Mellitus

Welters Alena , Marquard Jan , Otter Silke , Stirban Alin , Eglinger Jan , Herebian Diran , Stozer Andraz , Wnendt Stephan , Piemonti Lorenzo , Kohler Martin , Schliess Freimut , Rupnik Marjan Slak , Heise Tim , Berggren Per-Olof , Klocker Nikolaj , Mayatepek Ertan , Eberhard Daniel , Kragl Martin , Lammert Eckhard , Meissner Thomas

Background: N-methyl-D-aspartate receptors (NMDARs) are ionotropic glutamate receptors that are widely expressed in the CNS where they play an important role in neurotransmission and cell viability and serve as drug targets for the treatment of neurodegenerative disorders.Objective and hypotheses: Much less is known about the role of pancreatic NMDARs. Since neurons and pancreatic islets have many features in common, we hypothesiz...

hrp0089rfc1.4 | Adrenals &amp; HPA Axis | ESPE2018

Mass Spectrometry-Based Assessment of Childhood Androgen Excess in 487 Consecutive Patients Over 5 Years

Idkowiak Jan , Elhassan Yasir S , Mannion Pascoe , Smith Karen , Webster Rachel , Saraff Vrinda , Barrett Timothy G , Shaw Nick J , Krone Nils , Dias Renuka P , Kershaw Melanie , Kirk Jeremy , Krone Ruth E , O'Reilly Michael W , Arlt Wiebke

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...