hrp0086p2-p792 | Pituitary and Neuroendocrinology P2 | ESPE2016

Haplo-insufficiency for LHX4 Alone does not Result in Hypopituitarism

Kurre Mala , Gevers Evelien

Background: Two LIM homeodomain transcription factors, Lhx3 and Lhx4, are critical in the development of the nervous system and pituitary gland in mice. Lhx4 null mice die shortly after birth and have abnormal pituitary gland development. Recently, the first human homozygous LHX4 mutation was described, resulting in congenital hypopituitarism and neonatal death. Heterozygous LHX4 variants have been described and are linked to hypopituitarism but have...

hrp0094p2-299 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Case report: Tall stature, obesity and hip dysplasia in Weaver syndrome due to a loss-of-function variant in EHZ2

Paraskevopoulou Niki , Gevers Evelien ,

Case report: We describe a male with tall stature (final height 210.5cm), macrocephaly (63.5cm, +5.5SD), obesity (BMI 44.6 kg/m2) and mild learning difficulties. Birth weight was 4.6kg (+2.3SD). He had slightly delayed developmental milestones. He was referred at the age of 5 for tall stature (+6.2SD), with a head circumference on the 98th centile, growing at a rate of 10cm/yr. He had thick doughy skin, a mild squint, somewhat coarse features, large hands...

hrp0095p1-103 | GH and IGFs | ESPE2022

A novel IGF1R variant in a child with mild IGF1 resistance, normal birth weight, mild short stature and microcephaly

Purushothaman Preetha , Gevers Evelien

Introduction: The insulin-like growth factor 1 receptor (IGF1R) gene, located on chromosome 15q26.3, encodes the 1367 aa tyrosine kinase receptor IGF1R which is involved in many processes, including growth. Few heterozygous mutations and deletions of IGF1R leading to IGF-I resistance have been described in patients with intrauterine and postnatal growth retardation, microcephaly and variable learning difficulties. We report a not yet previous...

hrp0095p1-429 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Progressive pseudorheumatoid dysplasia as a cause of short stature

Purushothaman Preetha , F Gevers Evelien

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic bone disorder characterised by the progressive degeneration of articular cartilage leading to pain, stiffness, joint enlargement and short stature. PPRD occurs due to a mutation in cellular communication network factor 6 (CCN6)/Wnt1-inducible signalling protein 3 (WISP3) gene, encoding a 354 amino acid signalling factor involved in BMP/WNT signalling and mitochondri...

hrp0094p1-60 | Bone B | ESPE2021

Mosaic PHEX variants are important causes of X-linked hypophosphataemic rickets.

Prentice Philippa , Owens Martina , Brain Caroline , Allgrove Jeremy , Gevers Evelien ,

Introduction: X-linked hypophosphataemic rickets (XLH), due to mutations in the PHEX (Phosphate-regulating Endopeptidase homolog; X-linked) gene, causes reduced bone and dentin mineralisation and decreased renal phosphate reabsorption. Mosaic PHEX mutations are reported only in a few case reports.We report three male cases, with mosaic pathogenic PHEX variants, showing importance of considering this in the diagnosis of XLH.Case 1 pre...

hrp0094p2-16 | Adrenals and HPA Axis | ESPE2021

Rapid clearance of hydrocortisone as a cause of poor control of CAH detected by 24-hour profiling of hydrocortisone concentrations.

Iordanidou Aikaterini , Ong Ken , Hindmarsh Peter , Gevers Evelien ,

Introduction: Hydrocortisone (HC) has a short half-life and individualization of treatment is required for optimal treatment of CAH, balancing between under- and overtreatment. Twenty four hour profiling of HC concentrations has shown large interindividual variation in clearance of HC and therefore has been used to individualize treatment. We present a severely virialized girl with CAH, in whom high doses of steroids failed to suppress androgen production thou...

hrp0094p2-289 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Familial Mosaic Turner Syndrome with short stature and spontaneous puberty due to a ring X chromosome with distal Xp22.3 and distal Xq26 deletion

Lim Sharon , Brain Caroline , Lees Melissa , Gevers Evelien ,

Abnormal phenotypes in patients with ring chromosome X can be ascribed to failed or partial X inactivation due to loss of XIST on Xq13. We describe a mother and 1 daughter with the same mosaic karyotype, and another daughter with 45, X. KZ, 12 years old and recently moved from Poland, was investigated for short stature (Ht SDS -2.1), her mother was 142.9 cm, father 176.1cm. Both were healthy and not dysmorphic. Birth weight at 37 weeks was 2.63kg (20th centile Polis...

hrp0089p2-p116 | Diabetes & Insulin P2 | ESPE2018

Effect of a Reduced Fluid Replacement Regimen on the Resolution of Diabetic Ketoacidosis (DKA) in Children

Hapuarachchi Danica Shanee , Ahmed Jaberuzzaman , Gevers Evelien , Moodambail Abdul , Thankamony Ajay

Background: A substantially reduced fluid replacement regimen was introduced in the ‘New’ British Society of Paediatric Endocrinology Diabetes (2015) compared to ‘Old’(2009) guideline for DKA management. However, data on varying fluid replacement regimens is limited and we explored this by comparing outcomes of the 2 guidelines on the resolution of DKA.Methods: In a retrospective audit of consecutively admitted patients (age <18 y...

hrp0084p3-760 | Diabetes | ESPE2015

Neonatal Diabetes – the Great Masquerader: Experiences from One Hospital

Ponmani Caroline , Allgrove Jeremy , Gevers Evelien , Keane Morgan , Banerjee Kausik , Besser Rachel

Background: Neonatal diabetes can present from birth to six months of age. This can often be confused with sepsis as there is considerable overlap of symptoms in this age group as illustrated below.Objective and hypotheses: The cases described illustrate the importance of blood glucose monitoring in sick infants presenting to emergency care settings we recommend an initial check of blood glucose concentrations in all sick infants who present to Accident ...

hrp0094p1-23 | Diabetes A | ESPE2021

Capillary blood sample collection at home for HbA1c measurements during the COVID-19 pandemic in children with diabetes mellitus

Qian Hui Lim Rachel , Gireesh Bhat Nikita , Begum Rojina , Shah Pratik Hasmukh , Ayling Ruth , Gevers Evelien ,

Background: The COVID-19 pandemic has resulted in rapid implementation of tele-clinics; patients have frequently missed routine point-of-care HbA1c testing, vital for evaluating long-term glycaemic control. We evaluated the feasibility of remote HbA1c monitoring via self-collection of capillary blood samples at home, and examined clinical characteristics associated with engagement with this system.Methods: Bio-Rad Haemog...