hrp0089p2-p386 | Thyroid P2 | ESPE2018

Triac Treatment Response to Thyroid Hormone Resistantance

Cinaz Peyami , Uğurlu Aylin Kılınc , Doğer Esra , Akbaş Emine Demet , Bideci Aysun , Camurdan Orhun

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

hrp0098fc6.4 | Fat, Metabolism and Obesity 1 | ESPE2024

Relaxation of Food Control Parameters Based on Improvements in the Food Safe Zone Questionnaire Occurs with Reduction of Hyperphagia in Clinical Trials of Diazoxide Choline Extended Release (DCCR) in Participants with Prader-Willi Syndrome

Bridges Nicola , Gevers Evelien , Yanovski Jack , Salehi Parisa , Hall Shoemaker Ashley , Abuzzahab Jennifer , Obrynba Kathryn , Fleischman Amy , Stevenson David , Wilding John , Mathew Verghese , Viskochil David , Felner Eric , E. McCandless Shawn , Bird Lynne , Lah Melissa , Littlejohn Elizabeth , Shea Heidi , Holland Anthony , Goldstone Anthony , Barrett Timothy , Konczal Laura , Dharmaraj Poonam , Das Urmi , Angulo Moris , Kimonis Virginia , Guftar Shaikh Mohomad , Mejia-Corletto Jorge , Yen Kristen , Gandhi Raj , Ballal Shaila , Hirano Patricia , Cowen Neil , Bhatnagar Anish , Huang Michael , Butler Merlin , Miller Jennifer

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. With no approved therapies to treat hyperphagia, disease management requires strict dietary and environmental controls to restrict access to food. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The obje...

hrp0098fc11.4 | Fat, Metabolism and Obesity 2 | ESPE2024

Long-term Efficacy Results of Diazoxide Choline Extended-Release (DCCR) Tablets in Participants with Prader-Willi Syndrome from the Completed C601 (DESTINY PWS) and C602 Open Label Extension (OLE) Studies

Gevers Evelien , Bridges Nicola , Yanovski Jack , Felner Eric , Salehi Parisa , Hall Shoemaker Ashley , Fleischman Amy , Goldstone Anthony , Angulo Moris , Stevenson David , Obrynba Kathryn , Guftar Shaikh M , Holland Anthony , Mathew Verghese , Viskochil David , E. McCandless Shawn , Bird Lynne , Lah Melissa , Kimonis Virginia , Abuzzahab Jennifer , Konczal Laura , Littlejohn Elizabeth , Shea Heidi , Dharmaraj Poonam , Das Urmi , Mejia-Corletto Jorge , Wilding John , Harwood Katerina , Yen Kristen , Gandhi Raj , Gong Jing , Hirano Patricia , Cowen Neil , Bhatnagar Anish , Huang Michael , Butler Merlin , Miller Jennifer

Background: Prader-Willi syndrome (PWS) is a rare genetic neurobehavioral-metabolic disorder characterized by hyperphagia and behavioral/psychological complications. No approved therapies exist for treating hyperphagia in patients with PWS. DCCR is an oral, once-daily medication currently under development for the treatment of PWS.Objective: The objective was to determine the efficacy of investigational DCCR on hyperphag...

hrp0084p2-322 | DSD | ESPE2015

Clinical Spectrum of 45,X/46,XY Mosaicism and Variants in Children

Jung Hae Woon , Kim Hwa Young , Lee Gyung Min , Kim So Youn , Jeong Kyung A , Choi Keun Hee , Lee Jieun , Lee Young Ah , Shin Choong Ho , Yang Sei Won

Background: The phenotypic manifestations in the 45,X/46,XY karyotype is diverse and there are challenges in management due to this diversity.Objective and hypotheses: The aim of this study was to describe the clinical spectrum of 45,X/46,XY mosaicism and variants diagnosed in childhood.Method: A retrospective review of 20 patients with 45,X/46,XY (n=7) and its variants ((45,X/46,X,der(Y) (n=12)) and 46,X,der(X),t...

hrp0098p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Pubertal virilization in individuals with partial gonadal dysgenesis attributable to DHH mutation: a case report

Günay Aylin , Kurt İlknur , Ayaz Burcu , Karagözlü Akgül Ahsen , Ersoy Ayşenur , Bilge Geçkinli Bilgen , Yavaş Abalı Zehra , Nuri Özbek Mehmet , Güran Tülay

Introduction: Desert hedgehog (DHH) is mainly involved in testicular development and peripheral nerve sheath formation. DHH protein is produced by Sertoli cells and promotes Leydig cell development. It regulates androgen synthesis through Sertoli-Leydig cell interaction and is also involved in sex differentiation. Biallelic DHH (MIM*605423) variants are an extremely rare cause of 46,XY gonadal dysgenesis (GD). Patients may present with abnormal genita...

hrp0095p2-3 | Adrenals and HPA Axis | ESPE2022

A Rare Cause of Peripheral Precocious Puberty

Çakır Gündoğan Seçil , Kılınç Uğurlu Aylin , Özdemir Gökçe Ayşe , Özyörük Derya , Yardımcı Gönül , Kasap Yusuf , Karakuş Esra , Sarı Neriman , Seçil Ekşioğlu Ayşe , Ölçücüoğlu Erkan , Boyraz Mehmet

Introduction: Peripheral precocious puberty is a non-gonadotropin-dependent early pubertal development. Exogenous intake of sex steroids, gonadal or adrenal pathologies, ectopic hCG-secreting lesions play a role in the etiology. Adrenal tumors is a rare cause of heterosexual precocious puberty.Case: An eight-year-old female patient was admitted with the complaints of genital hair growth and breast enlargement. The patien...

hrp0098p2-239 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Clinical Follow-Up of a Case Diagnosed with POMC Deficiency Presenting with Hypoglycemia and Cholestasis

Sarıkaya Özdemir Behiye , Emel Eren Sümeyye , Melek Oğuz Melahat , Bakır Gizem , Sadiye Karadeniz Cansu , Şeyma Eken Emine , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Tok Ayşegül , Ataseven Kulalı Melike , Savaş Erdeve Şenay

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...

hrp0098p3-249 | Thyroid | ESPE2024

Treating versus Not Treating Subclinical Hypothyroidism (SCH) in Children: A Comprehensive Review

Alaaraj Nada , Alyafei Fawzia , Hamed Noor , Ahmed Shayma , Sabt Amal

Introduction: Subclinical hypothyroidism (SCH) in children, characterized by elevated thyroid-stimulating hormone (TSH) levels with normal free thyroxine (T4) levels, presents a clinical dilemma. The decision to treat SCH with L-thyroxine versus adopting a watchful waiting approach hinges on the potential benefits and drawbacks.Aim: This review synthesizes evidence from 20 studies to assess the impact of treatment versus...

hrp0094fc8.2 | Neuroendocrinology | ESPE2021

Recessive PRDM13 mutations result in hypogonadotropic hypogonadism and cerebellar hypoplasia

Gregory Louise C. , Whittaker Danielle E , Oleari Roberto , Quesne-Stabej Polona Le , Williams Hywel J. , UCL GOSgene , Torpiano John G , Formosa Nancy , Cachia Mario J. , Field Daniel , Lettieri Antonella , Ocaka Louise , De Martini Lisa Benedetta , Rajabali Sakina , Riegman Kimberley L. , Paganoni Alyssa J.J. , Chaya Taro , Robinson Iain C.A.F. , Furukawa Takahisa , Cariboni Anna , Basson M. Albert , Dattani Mehul T. ,

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

hrp0092s9.1 | Heterogeneity of Paediatric Diabetes | ESPE2019

Diversity in Monogenic Diabetes Management and Prognosis

Njølstad Pål Rasmus

Monogenic forms of diabetes have specific treatments that differ from the standard care provided for type 1 and type 2 diabetes, making the appropriate diagnosis essential. Misclassification of all diabetes types may occur and healthcare providers should be aware of this possibility. A systematic approach to subjects who are newly diagnosed with diabetes can assist classification of common forms of diabetes and identify those in whom molecular investigation would be advantageo...