hrp0089p3-p221 | Growth & Syndromes P3 | ESPE2018

Two Siblings with Alström Syndrome

Cebeci Ayse Nurcan , Yesil Gozde , Ekici Baris

Background: Alström syndrome is a rare genetic disorder characterized by retinal degeneration, hearing loss, early-onset obesity, type 2 diabetes, cardiomyopathy, systemic fibrosis and progressive multi-organ failure. Our aim is to present two siblings who were diagnosed in early childhood.Case presentation: Three years five months old female and her two years one month old sister admitted to paediatric neurology department due to lack of eye contac...

hrp0089p1-p016 | Adrenals and HPA Axis P1 | ESPE2018

Recurrent Hypoglycemia in a Preschooler Girl with Overgrowth: Isolated ACTH-Deficiency with a Novel TPIT Mutation

Abali Zehra Yavas , Yesil Gozde , Kirkgoz Tarik , Kaygusuz Sare Betul , Turan Serap , Bereket Abdullah , Guran Tulay

Objective: Congenital isolated ACTH deficiency (IAD) is a rare autosomal recessive disorder that is characterised by low levels of plasma ACTH and cortisol with normal pituitary structure and hormones. Clinical presentation can occur in the neonatal period, as well as later in childhood. Here, we report a patient with IAD due to a novel TPIT mutation.Case: A 48/12 years old girl presented with loss of concioussness and found to be hypoglycemic...

hrp0089p2-p319 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

An 18 Month Old Boy with Hypoglycemic Convulsion and Obesity Due to POMC Deficiency

Betul Kaygusuz Sare , Yesil Gozde , Kırkgoz Tarık , Turan Serap , Bereket Abdullah , Guran Tulay

Objectives: Proopiomelanocortin (POMC) is the polypeptide precursor of several peptides including adrenocorticotropic hormone (ACTH), melanocyte stimulating hormone (MSH) and β-endorphin. POMC deficiency is a very rare disease characterized by adrenal insufficiency, early-onset obesity, and pigmentation abnormalities. Here we describe an 18 month old boy with central adrenal insufficiency, hypothyroidism, obesity and fair skin. Genetic analysis revealed a homozygous p.G99...

hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

hrp0094p2-277 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Response to growth hormone therapy with high IGF-1-levels and severe insulin resistance in two-cases with SOFT syndrome: A novel homozygous mutation in POC1A

Karakilic-Ozturan Esin , Altuoglu Umut , Ozturk Ayse Pinar , Toksoy Guven , Tutku Turgut Gozde , Poyrazoglu Sukran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza ,

Introduction: SOFT-syndrome (#MIM 614783) is a rare condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis caused by POC1A gene mutations. Moreover, severe insulin resistance (IR) and metabolic disorders may also accompany. Hereby, we report two-patients with SOFT-syndrome, who had severe short stature and IR, with a novel POC1A mutation.Case Report: Patient 1 (P1), a 16-month ol...

hrp0094p2-383 | Pituitary, neuroendocrinology and puberty | ESPE2021

Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

OKUR Iclal , ARI Hasan , Cetinkaya Semra , Emine Derinkuyu Betul , Caglar Gizem , Gokce Cinar Hasibe , Yesil Sule , Savas-Erdeve Senay ,

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...