hrp0094con2.2 | Should children with isolated idiopathic GHD be retested in early/mid-puberty, rather than wait until adult height is achieved? | ESPE2021

Should children with isolated idiopathic GHD (IIGHD) be retested in early/mid-puberty, rather than wait until adult height is achieved? (AGAINST)

Wit Jan-Maarten ,

The many false-positive diagnoses of IIGHD do not automatically imply that re-testing is needed. Instead, the diagnostic procedure should be improved. Still, re-testing of children can be useful. Regarding the timing, re-testing within 1-2 months would only extend the diagnostic procedure. Re-testing after one year may be a useful option if the growth response appears insufficient. The current approach of re-testing at near-adult height (NAH) is associated with highest GH wast...

hrp0084p2-403 | GH & IGF | ESPE2015

Homozygous Carriers of a Novel IGFALS Mutation are 1.5 SD Shorter than Heterozygous Relatives and Tend to have Lower Bone Mineral Density

Isik Emregul , van Doorn Jaap , Demirbilek Huseyin , Losekoot Monique , Wit Jan-Maarten

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...

hrp0092p1-228 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Broadening of the Phenotypic Spectrum of Coats Plus Syndrome: A Patient Presenting with Extreme Short Stature as a Hallmark Feature

Riquelme Joel , Mericq Veronica , Pena Fernanda , Boogaard Merel W. , van Dijk Tessa , van Duyvenvoorde Hermine A. , Wit Jan-Maarten , Losekoot Monique

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

hrp0092rfc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Long Term Effects of Treatment with Oxandrolone (Ox) in Addition to Growth Hormone (GH) in Girls with Turner Syndrome (TS) on Bone Mineral Density in Adulthood

Breunis Leonieke , Boer Pieter , Freriks Kim , Menke Leonie , Boot Annemieke , Wit Jan Maarten , Otten Barto , Muinck Keizer-Schrama Sabine de , Hermus Ad , Timmers Henri , Sas Theo

Introduction: Ox in a dose of 0.03-0.05 mg/kg per day in addition to GH treatment significantly increases adult height in TS more than GH alone. To date, the long term effects of Ox in childhood on bone mineral density (BMD) in adulthood are unknown.Methods: This is a follow-up study of a previous randomized controlled trial, performed in the Netherlands. In the original trial, 133 girls were treated with GH. Placebo (Pl...

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...

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=...

hrp0082p1-d1-239 | Thyroid | ESPE2014

Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism

Bonomi Marco , Duminuco Paolo , Salvatoni Alessandro , Maggi Mario , Buzi Fabio , Pilotta Alba , Radetti Giorgio , Beck-Peccoz Paolo , Campi Irene , Schoenmakers Nadia , Joustra Sjoerd , Wit Jan Maarten , Bernard Daniel , Nespoli Luigi , Bozzola Mauro , Persani Luca

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSH╬▓, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...