hrp0098p1-293 | Thyroid 3 | ESPE2024

Genetic Etiology in Congenital Hypothyroidism

Gürpınar Gözde , Böke Koçer Gizem , Koçyiğit Esra , Hürmüzlü Közler Selen , Parıltay Erhan , Akın Haluk , Huw Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Numerous genetic defects have been identified in relation to congenital hypothyroidism (CH). In recent years, with the increased accessibility of molecular genetic analysis, CH etiology is better understood. We evaluated patients followed with a diagnosis of CH who were diagnosed using next-generation sequencing analysis.Methods: The study included 19 cases (10 females,52.6%). Patients with thyroid gland <e...

hrp0098p2-24 | Adrenals and HPA Axis | ESPE2024

Genotype-Phenotype correlations in three patients with CYP21A2 picked up by 17- ɑ OHP screening

Stoeva Iva , Mihova Kalina , Kamenarova Kunka , Kostova Daniela , Georgieva Raliza , Arshinkova Margarita , Yaneva Natasha , Kaneva Radka

Introduction: Systematic newborn screening (NBS) based on 17 ɑ OHP, followed by molecular analysis for the most frequent adrenal enzyme steroid abnormalities in newborns at high risk for congenital adrenal hyperplasia (CAH), allowed to reveal the nature of genotype-phenotype correlations in most of the patients (pts) presented as “classical CAH” – salt wasters (SW) or simple virilizers (SV). According to the enzyme rest activity they co...

hrp0092p1-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Clinical and Molecular Characteristics, Genotype-Phenotype Correlation in 113 Chinese Children with SRD5A2 Gene Mutations

Fan Lijun , Gong Chunxiu , Song Yanning

Objective: Studies on 5α-reductase type 2 deficiency (5α-RD) are limited and the genotype-phenotype correlation has not been elucidated. The aim of the study was to analyze clinical and molecular characteristics, genotype-phenotype correlation in a large Chinese 5α-RD cohort.Design: Database registration study.Method: We analyzed clinical and genetic data of gene con...

hrp0092p2-75 | Diabetes and Insulin | ESPE2019

Insulin Treatment of Cystic Fibrosis Related Diabetes (CFRD) on BMI and Respiratory Function

Giugno Andrea , Lo Presti Donatella , Leonardi Salvatore , Parisi Giuseppe , Timpanaro Tiziana , Papale Mariella , Rotolo Novella , Sauna Alessandra , Caruso-Nicoletti Manuela

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...

hrp0089p2-p347 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Clinical, Laboratory and Molecular Genetic Findings of Patients with 17β-Hydroxysteroid Dehydrogenase 3 Deficiency

Poyrazoglu Sukran , Toksoy Guven , Aghayev Agharza , Karaman Birsen , Avci Sahin , Altunoglu Umut , Al Asli Derya Kardelen , Ozturan Esin Karakilic , Bas Firdevs , Basaran Seher , Uyguner Oya , Darendeliler Feyza

Background: 17β-Hydroxysteroid Dehydrogenase3 (17b-HSD3) deficiency is a rare autosomal recessive disorder, caused by a mutation of the HSD17B3 gene. The phenotypic spectrum ranges from normal-appearing female external genitalia to microphallus with hypospadias and variable degrees of genital ambiguity. 17b-HSD3 deficiency phenotype is variable, leading to misdiagnosis especially with partial androgen insensitivity syndrome and 5alfa reductase deficiency.<p c...

hrp0086p1-p366 | Gonads &amp; DSD P1 | ESPE2016

Consecutive Lynestrenol and Cross-Sex Hormone Treatment in Biological Female Adolescents with Gender Dysphoria: A Retrospective Analysis

Tack Lloyd , Craen Margarita , Dhondt Karlien , Vanden Bossche Heidi , Laridaen Jolien , Cools Martine

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...

hrp0086p1-p894 | Thyroid P1 | ESPE2016

Comprehensive Analysis of Seven Toll-Like Receptor Genes Including 15 Single-Nucleotide Polymorphisms with Autoimmune Thyroid Disease in Korean Children

Cho Won Kyoung , Jang Jung-Pil , Ahn Moon Bae , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu , Kim Shin Hee , Cho Kyoung Soon , Park So Hyun

Background: The Toll-like receptors (TLRs) are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: In this study, we assess the association of TLR polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: Seven Toll-like receptor genes (TLR-1, -2, -3, -4, -5, -6, -9) including 15 single-nucleotide polymor...

hrp0082p2-d1-449 | Growth | ESPE2014

Fibroblast Growth Factor 21 is Inversely Associated with Growth Rates in Infancy

Mericq Veronica , De Luca Francesco , Hernandez Maria_Isabel , Pena Veronica , Rossel Katherine , Cavada Gabriel , Avila Alejandra , Iniguez German

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...

hrp0084p2-239 | Bone | ESPE2015

Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

Demir Korcan , Kattan Walaa E , Zou Minjing , Durmaz Erdem , BinEssa Huda , Nalbantoglu Ozlem , Al-Rijjal Roua A , Meyer Brian , Ozkan Behzat , Shi Yufei

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...