hrp0082p3-d1-671 | Bone | ESPE2014

A Challenging Diagnosis of Pseudohypoparathyroidism Type 1a and Practical Management: a Case Report

Grace M L , O'Riordan S , O'Connell S M , Bogue C , Joyce C , Allgrove J

Background: PHP is a rare heterogeneous genetic disorder causing parathyroid hormone (PTH) resistance. This condition is caused by deficiency of the α subunit of the protein Gs, encoded by GNAS gene. Clinical classification is based on presence or absence of Albright hereditary osteodystrophy (AHO) and multiple or single hormone resistance, to PHP1a/1c and PHP1b respectively.Objective: To describe the clinical and practical management of a case of P...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses Albright’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0082p3-d2-854 | Growth (3) | ESPE2014

Descriptive Analysis of Medication Adherence for Patients Treated with GH Therapy

Michels S L , Uribe C , Li Y , Meletiche D M , Velez F F , Locklear J C

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

hrp0084p2-553 | Thyroid | ESPE2015

Efficacy of Supplemental Liothyronine for Patients with Congenital Hypothyroidism and Pituitary Resistance to Thyroid Hormone

Paone Laura , Fleisch Abby F , Feldman Henry , Cappa Marco , Brown Rosalind , Wassner Ari J

Background: Recent guidelines recommend levothyroxine (LT4) monotherapy for all infants with congenital hypothyroidism (CH). However, up to one-third of patients have pituitary resistance to thyroid hormone and, to normalize their TSH, require supranormal circulating levels of T4. Liothyronine (T3) has been proposed as a supplemental therapy for such patients, but data demonstrating its use and efficacy are limited.Object...

hrp0084p3-1034 | Growth | ESPE2015

Birth Characteristics Influence the Male to Female Diagnostic Prevalence of Idiopathic GH Deficiency

Camacho-Hubner Cecilia , Lindberg Anders , Arnhold Ivo J P , Ranke Michael B

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...

hrp0084p3-1190 | Thyroid | ESPE2015

Two Patients with Allen–Herndon–Dudley Syndrome: a Novel Mutation on MCT8 Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , de Souza Elaine C Lima , Hatun Sukru , Visser Theo J

Background: Monocarboxylate transporter 8 (MCT8) is a specific transporter of triiodothyronine (T3). MCT8 gene mutations cause a rare X-linked disorder known as Allan–Herndon–Dudley syndrome, characterized by thyroid dysfunction (high T3, low T4, and normal/high TSH) and psychomotor retardation.Case report: A 4-year- and 9-month-old boy, who was already having L-T4 treatment fo...

hrp0084p3-1194 | Thyroid | ESPE2015

Development and Risk Factors of Thyroid Dysfunction in Patients with Positive TPO Antibodies

Gomez C Nicolas , McNeilly J , Mason A , Ahmed S F , Wong S C , Shaikh G

Background: Autoimmune thyroid disease (AITD) is the most common thyroid disorder in the paediatric age range. However, the development of thyroid dysfunction in biochemically euthyroid children with positive TPOAbs and associated risk factors is unclear.Objective and hypotheses: To evaluate the evolution of children with positive TPOAbs and normal thyroid function and identify predictive factors for the development of thyroid dysfunction.<p class="a...

hrp0094p1-163 | Growth B | ESPE2021

The etiology of extreme tall stature above +3 SDS in a screened Finnish population

Karkinen Juho , Sorakunnas Eero , Miettinen Paivi J. , Raivio Taneli , Hero Matti ,

Background: Most comprehensive guidelines on tall stature suggest that extremely tall children (defined as height above +3 SDS) should be referred to specialized health care for comprehensive diagnostic work-up. However, currently the etiology of tall stature is poorly characterized and no systematic studies focusing on extreme tall stature exist.Methods: We identified all subjects with height above +3 SDS after the age ...

hrp0097fc3.4 | Fat, metabolism and obesity 1 | ESPE2023

A Novel Mutation in DYRK1B Associated With Abdominal Obesity Metabolic Syndrome 3 (AOMS3)

Faisal Mohamadsalih Ghassan , Al-Barazenji Tara , Omar Mohammed Idris , Nedham A J Alshafai Mashael , Hussain Khalid

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

hrp0097fc7.5 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

SGPL1 deficiency, a cause of 46XY DSD and adrenal insufficiency, impairs lipid metabolism and steroidogenesis in Leydig cells

Kwong RMW , Smith CJ , Williams J , Hall C , Metherell LA , Prasad R

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...