hrp0089p3-p170 | Fetal, Neonatal Endocrinology and Metabolism P3 | ESPE2018

A Rare Case of Congenital Hyperinsulinemina with ABCC8 Missense Mutation Presenting with Focal Pancreatic Lesion

Sethi Aashish , Ramachandran Smita , Kochar Inderpal

Introduction: Congenital Hyperinsulinemic hypolglycemia (CHI) is a rare genetic disorder resulting severe hypoglycaemia secondary to excessive insulin release from the pancreatic cells. Its early diagnosis is imperative to prevent irreversible brain damage by hypoglycemia. Genetic testing and 18-F-DOPA scan help to confirm the diagnosis.Case: A 2.7 kg male baby was born at term to non-consanguineous parents by normal vaginal delivery. On day 4 of life th...

hrp0086p1-p691 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes

Mendoza Carolina , Garfias Carolina , Seiltgens Cristian , Silva Ricardo , Hodgson Isabel , Ugarte Francisca , Flanagan Sarah , Ellard Sian , Garcia Hernan

Background: Neonatal diabetes (ND) is a rare monogenic form of diabetes presenting within the first six months of life. The most frequent causes include mutations in KCNJ11, ABCC8 and insulin genes, but up to 40% of patients remain without a molecular genetic diagnosis.Case presentation: Case 1: a female newborn of non-consanguineous parents, born at 35 weeks, SGA. She presented with hyperglycemia at second day of life...

hrp0082p2-d2-583 | Sex Development (1) | ESPE2014

Novel Mutation in a Newborn with a Rare Cause of 46,XY Sex Reversal: 17β- Hydroxysteroid Dehydrogenase Type 3 Deficiency

Demir Korcan , Yildiz Melek , Elmas Ozlem Nalbantoglu , Korkmaz Huseyin Anil , Ozkan Behzat

Background: 17β-Hydroxysteroid dehydrogenase type 3 (17β-HSD3) deficiency is a rare cause of 46,XY sex reversal due to a defect in conversion of androstenedione to testosterone. It is autosomal recessively inherited and caused by mutations in 17HSD3.Objective and hypotheses: To define clinical and laboratory characteristics of 17β-HSD3 deficiency during neonatal period.Method: An 8-day-old newborn with female externa...

hrp0082p3-d1-627 | Adrenals & HP Axis | ESPE2014

A Rare Cause of Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency: a Case Report

Cinaz Peyami , Cihan Emeksiz Hamdi , Celik Nurullah , Doger Esra , Yuce Ozge , Camurdan Orhun , Bideci Aysun

Background: P450 oxidoreductase (POR) deficiency is the newest form of congenital adrenal hyperplasia first described in 2004. POR is a protein that transfers electrons from NADPH to all 50 microsomal forms of cytochrome P450. Mutations that cause POR deficiency result in partial deficiency of the enzymes 21-hydroxylase and 17α-hydroxylase. Remarkable clinical features of the POR deficiency are genital ambiguity in both sexes, glucocorticoid deficiency and Antley-Bixler s...

hrp0095p1-62 | Diabetes and Insulin | ESPE2022

A rare case of concomitant inflammatory polyneuropathy and type 1 diabetes with Covid 19 in a teenager

Louizou Veronika , Belkhatir Khadidja , Besser Rachel , Ramdas Sithara , Basu Supriyo

Introduction: Reduced consciousness during diabetic ketoacidosis (DKA) is an acute medical emergency which necessitates rapid escalation of care. Rarely it can point towards unusual co-morbidities too. We report a case of new- onset type 1 diabetes (T1D) presenting with severe DKA in a teenager, complicated by an evolving neuropathy.Case report: A previously healthy 17-year-old girl presented in severe DKA following a 4-...

hrp0095p1-280 | Fat, Metabolism and Obesity | ESPE2022

A rare cause of monogenic obesity: Schaaf-Yang syndrome due to a novel MAGEL2 gene variant

Yavas Abali Zehra , Arslan Ates Esra , Guran Tulay , Bereket Abdullah , Turan Serap

Background: Paternally expressed mono-allelic pathogenic variants in the MAGEL2 (melanoma antigen L2) gene cause Schaaf-Yang syndrome (SHFYNG), a multisystem disorder with psychomotor delay, intellectual disability, behavioral abnormalities, and obesity. Severity of the disease is highly variable, some patients may die in utero and some can live with moderate disabilities. MAGEL2 gene is located in the 15q11.2– q13 region which includes...

hrp0095p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

Požgaj Šepec Marija , La Grasta Sabolić Lavinia , Karnaš Helena , Stipoljev Feodora , Stipančić Gordana

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

hrp0095p2-16 | Adrenals and HPA Axis | ESPE2022

Adrenocortical tumor: a rare tumor in children. Report of 2 infants presented with precocious pubarche and rapid growth.

Almutlaq Mohammad

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...

hrp0092p2-59 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Spondyloocular Syndrome: Presentation of Two Siblings Diagnosed with The Rare Disease and The Results of Pamidronate Therapy

Vuralli Dogus , Simsek Kiper Pelin Ozlem , Utine Eda , Unsal Yagmur , Alikasifoglu Ayfer , Kandemir Nurgun

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

hrp0092p2-198 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Evaluation of Diagnosis, Follow-up and Treatment Results of Growth Hormone in Rare Diseases; 10 Year Single Center Experience

Aycan Zehra , Arasli Yilmaz Aslihan , Yel Servet , Savas Erdeve Senay , Çetinkaya Semra

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...