hrp0082p2-d1-586 | Thyroid | ESPE2014

Thyroid Function and Autoimmunity and Their Relation to Weight Status in Healthy Children and Adolescents

Garcia-Garcia Emilio , Galera-Martinez Rafael , Garcia-Escobar Iciar , Oliva-Perez Patricia , Gomez-Llorente Jose L. , Momblan Jeronimo , Vazquez-Lopez Maria A. , Perales Antonio Bonillo

Background: The interrelationships between body weight and thyroid status are complex. Serum TSH is typically increased in obese compared with lean individuals. Several mechanisms leading to hyperthyrotropinemia have been hypothesized.Objective and hypotheses: To compare thyroid function and autoimmunity in normal, overweight and obese healthy children and adolescents in our population. To analyse any metabolic risk factor related to hyperthyrotropinemia...

hrp0092p1-1 | Adrenals and HPA Axis | ESPE2019

Could a Glucocorticoid Receptor Polymorphism be Protective against Hypothalamic-Pituitary-Adrenal Axis Suppression in Asthmatic Children on Corticosteroids?

Akurugu Wisdom Alemya , Van Heerden Carel Jacobus , Vorster Anna Alvera , Lesosky Maia , Mulder Nicola , Zöllner Ekkehard Werner

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

hrp0092p1-245 | Multisystem Endocrine Disorders | ESPE2019

PTEN Hamartoma Tumor Syndrome (Overlap of Cowden syndrome and the Bannayan-Riley-Ruvalcaba Syndrome): Case Report

Manyas Hayrullah , Çatli Gönül , Eroglu Filibeli Berna , Ayranci Ilkay , Özdemir Taha Resid , Dündar Bumin Nuri

Introduction: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare disease with dominant inheritance characterized by benign (hamartoma) and malignant tumors (breast, endometrium, thyroid). Mutations in the tumor suppressor gene phosphatase and tensin homologue (PTEN) gene are responsible for the etiology.Objective: In this case report, we present an 11-year-old male who was being monitored due to follicular thyroid cancer, an...

hrp0092p3-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

Eroğlu Filibeli Berna , Ayranci İlkay , Manyas Hayrullah , Kirbiyik Özgür , Dündar Bumin , Çatli Gönül

Introduction: Gain-of-function mutations in KISS1 and KISS1R genes and loss-of-function mutations in the gene encoding the makorin RING-finger protein 3 (MKRN3) expressed only in the paternal allele are the most common genetic reasons of familial central precocious puberty (CPP).Aim: We report a case of familial CPP and a pathogen variant in the MKRN3 gene.<stron...

hrp0089p2-p059 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

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

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

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...

hrp0095p1-89 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

A standard operating procedure for prevention, diagnosis, and management of hypoglycaemia in neonates ≥ 35 weeks of gestation

Roeper Marcia , Hoermann Henrike , Koestner Felix , Salimi Dafsari Roschan , Mayatepek Ertan , Kummer Sebastian , Meissner Thomas

Background: Hypoglycaemia is a common metabolic condition affecting up to 15% of all neonates and 50% of neonates with risk factors including diabetic mothers, large or small for gestational age, perinatal stress, or prematurity. It is well known that severe and prolonged hypoglycaemia, as commonly seen in congenital hyperinsulinism, can lead to brain injury. However, data on the effect of mild neonatal hypoglycaemia on neurodevelopment are limited. There is s...

hrp0095p1-490 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Delayed-onset Transient Hyperinsulinism in VLBW and ELBW Neonates

Hoermann Henrike , Roeper Marcia , Welters Alena , Mayatepek Ertan , Meissner Thomas , Kummer Sebastian

Background: Transient hyperinsulinism (THI) is a hypoglycemia disorder manifesting during the first days of life and usually resolving within the first weeks or months of life. Neonates exposed to pre- or perinatal stress have a higher risk to develop THI. However, the exact pathomechanism has not been elucidated yet. The objective of this study was to analyze the clinical and biochemical data of neonates with THI and a birth weight <1500 g.<p class="ab...

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...

hrp0095fc6.3 | Sex Development and Gonads | ESPE2022

Gonadal morphology in 46,XY gonadal dysgenesis: I-DSD Registry-based study

Tadokoro-Cuccaro Rieko , Hughes Ieuan , Cools Martine , van de Vijver Koen , Bilharinho de Mendonça Berenice , Domenice Sorahia , L Batista Rafael , Thomazini Dallago Renata , Lisboa Gomes Nathalia , Costa Elaine F. , Maciel-Guerra Andréa T. , Guerra-Junior Gil , Gabriel Ribeiro de Andrade Juliana , Lucas-Herald Angela , Bryce Jillian , Hannema Sabine , Juul Anders , Globa Eugenia , MсElreavey Kenneth , Baronio Federico , Lopez Dacal Jimena , Darendeliler Feyza , Poyrazoglu Sukran , Kolesińska Zofia , Niedziela Marek , Claahsen – van der Grinten Hedi L. , van den Akke Erica L.T. , Herrmann Gloria , Atapattu Navoda , Jain Vandana , Sharma Rajni , Bettendorf Markus , Konrad Daniel , Martin Holterhus Paul , Fica Simona , Skae Mars , Russo Gianni , Rita Stancampiano Marianna , Gazdagh Gabriella , H Davies Justin , Mohamed Zainaba , Nimali Seneviratne Sumudu , Guran Tulay , GÜVEN Ayla , Wasniewska Malgorzata , Mladenov Vilhelm , Verkauskas Gilvydas , Markosyan Renata , Korbonits Marta , Faisal Ahmed S , Hiort Olaf , Wagner Isabel , Thankamony Ajay

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...