hrp0092p3-234 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Diagnostic Dilemma in a 46 XY Female

Waldner Richelle , Rosolowsky Elizabeth , Caluseriu Oana , Grimbly Chelsey

Introduction: Disorders of sex development (DSD) are conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex. We present a case of a phenotypic 46 XY female with primary amenorrhea and full thelarche, presence of Mullerian structures, elevated testosterone with no virilization, and bilateral adnexal masses. Our differential diagnosis included Androgen Insensitivity and Gonadal Dysgenesis.Case Descriptio...

hrp0089p3-p007 | Adrenals and HPA Axis P3 | ESPE2018

Refractory Cyclical Cushing’s Disease - a Case of Multiple Pituitary Micro-adenomas in a Three Year Old Girl after 8 Years Follow up

Robinson Elizabeth , Poonam Poonam Dharmaraj , Heyningen Carl van

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...

hrp0089p1-p205 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A Paternally Inherited Familial Precocious Puberty Caused by a Novel MKRN3 Frameshift Variant

Odone Jessica , Nicholls Rachel , Yadlapalli Kumar , Crowne Elizabeth , Turnpenny Richard

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

hrp0086p2-p506 | Fat Metabolism and Obesity P2 | ESPE2016

Long Term Outcomes after Hospital Based, Life-Style Weight Loss Intervention During Childhood

Candler Toby , Wei Christina , Crowne Elizabeth , Shield Julian

Background: Weight loss interventions for obesity have shown variable short-term effects in adolescents and children, but data on longer-term benefits are sparse.Aim: To describe longer-term impact of lifestyle weight loss interventions in adolescent obesity.Method: Obese subjects previously underwent lifestyle weight loss interventions at a hospital-based clinic were invited to participate in metabolic re-assessment. Outcome measu...

hrp0086p2-p653 | Growth P2 | ESPE2016

Improving the ‘Gold Standard’: The Insulin Tolerance Test Revisited

Daskas Nikolaos , Barton John , Burren Christine , Crowne Elizabeth

Background: The optimal method to assess GH status remains controversial. GH provocation tests are used and the Insulin Tolerance Test (ITT) is regarded as the ‘gold standard’ to diagnose GH deficiency (GHD). The original selection of 0, 20, 30, 60, 90 and 120 min time points is still used in many protocols worldwide, but variations have evolved.Objective and hypotheses: Comparing standard ITT (StdITT) to a revised (RevITT) protocol.<p clas...

hrp0084p3-1226 | Thyroid | ESPE2015

A Rare Adverse Effect of Radioactive Iodine Therapy in a Child with Graves’ Disease

Walsh Elizabeth , Brown Marcie Drury , Crudo David , Constantaocs Cathrine

Background: Radioactive iodine (RAI) therapy has become the preferred treatment for Graves’ disease in children. Its use has found favour due to the risk of adverse effects in medical management and the invasiveness of thyroidectomy. Side effects of RAI in adults are well-documented and include dry mouth, sore throat, and neck pain. With its relatively recent application to paediatric patients, there is not a complete understanding of adverse effects in the paediatric pop...

hrp0097rfc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Are Glucagon-like peptide-1 (GLP-1) receptor agonists a new treatment option for hypothalamic obesity in the paediatric population: Preliminary experience from a tertiary paediatric endocrine centre

Chatterjee Sumana , Hawton Katherine , Giri Dinesh , Crowne Elizabeth

Background: Hypothalamic obesity (HO), defined as abnormal weight gain due to physical hypothalamic destruction, for example due to suprasellar tumours, is characterised by significant hyperphagia, lack of satiety, and rapid weight gain in the first year of hypothalamic insult. HO is not usually responsive to caloric restriction or lifestyle modification, and no pharmacotherapies are specifically approved for treating HO. GLP-1 agonists, which suppress appetit...

hrp0097p2-245 | Late Breaking | ESPE2023

Neonatal Hypocalcaemia and association with maternal Magnesium sulphate (MgSO4) administration in a single center neonatal unit

Kollurage Udeni , Morley Elizabeth , Baachaa Zuro , Dogar Azeem , Gireesh Rayasandra

Introduction: Hypocalcaemia is a biochemical abnormality noted in neonates and considered a possible side effect of maternal MgSO4 administration. Suggested mechanism is MgSO4 treatment increase maternal hypermagnesemia, inhibiting maternal parathyroid hormone secretion leading to maternal and foetal/neonatal hypocalcaemia.Objectives: This study is aimed to identify common risk factors, presentation, biochemical abnormal...

hrp0097p2-243 | Late Breaking | ESPE2023

Endocrine Outcomes in Bardet-Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary Clinic

Varughese Rachel , Pujari Divya , Hatton Elizabeth , Dyakova Theodora , Sparks Kathryn , Flack Sarah , Forsythe Elizabeth , Beales Phil , Chesover Alexander

Introduction: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000 – 160,000, caused by mutations across >20 known genes encoding for proteins responsible for the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...

hrp0095p1-109 | Growth and Syndromes | ESPE2022

Efficiency of The Genetic Study in the Assessment of Short Stature in Pediatrics

Murillo-Vallés Marta , Ros-Peña Andrea , Valls-Llussà Aina , Herrero-Espinet Javier

Introduction: Short stature is a common disorder in children that can become a challenge for clinical and molecular diagnosis. Recent studies in genetics and the implementation of Next-Generation Sequencing (NGS) in growth disorders have demonstrated the great genetic heterogeneity of short stature and the existence of highly varied phenotypes. The absence of homogeneous clinical criteria for conducting studies makes it difficult to evaluate the efficacy of th...