hrp0095p2-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Short Stature and Single Central Incisor of The Upper Maxillar: Pathogenic Variant in The SHH Gene

Dominguez-Riscart Jesus , Arellano-Ruiz Paola , Garcia-Zarzuela Ana , Modamio-Høybjør Silvia , M Lechuga-Sancho Alfonso

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

hrp0095p2-178 | Growth and Syndromes | ESPE2022

A Rare Cause of Proteinuria Presenting with Short Stature, Cataract, and Dysmorphic Findings: Lowe Syndrome with A Novel de Novo Mutation in the OCRL1 Gene

Gürbüz Fatih , Bilginer Gürbüz Berrak , Özalp Yüreğir Özge , Çayır Atilla

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

hrp0095p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

5 Alpha Reductase Deficiency as the Etiology of Primary Amenorrhea in a Girl with Thalassemia Major

Esen Senem , Orman Burçe , Sezer Abdullah , Bakır Abdullatif , Keskin Melikşah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...

hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

hrp0092p2-291 | Thyroid | ESPE2019

Investigation of Oxidative Effect in Saliva and Gingival Groove Fluids in Children with Hashimoto Thyroiditis

Atar Müge , Tan Aykut , Yetkin Ay Zuhal , Atar Müge , Pirgon Özgür

The aim of this study was to determine the periodontal health status in patients with Hashimoto thyroiditis (HT) and investigate the gingival groove fluid and saline oxidative stress parameters in order to demonstrate their relationship.Method: 30 patients between the ages of 11-17 years and 30 healthy volunteers aged between 10-17 years were included in the study. Serum tT4, TSH, anti-TPO, glucose, insulin, ALT, triglyceride, total chol...

hrp0089fc10.3 | Late Breaking | ESPE2018

Identification of the MAPK/ERK Pathway as a Novel Therapeutic Target in Adamantinomatous Craniopharyngioma

Guiho Romain , Apps John R , Hong Ying , Hargrave Darren , Brogan Paul , Jacques Thomas S , Martinez-Barbera Juan Pedro

Adamantinomatous craniopharyngiomas (ACPs) are clinically challenging tumours, the majority of which have activating mutations in CTNNB1. They are histologically complex, showing solid tumor component comprised of different morphological cell types (e.g. β-catenin accumulating cluster cells and palisading epithelium), surrounded by a florid glial reaction with immune cells, but also a cystic component. ACP cysts often exert substantial mass effect on critical str...

hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

hrp0089p3-p021 | Adrenals and HPA Axis P3 | ESPE2018

Presenting Features, Clinical Characteristics and Follow up of Familial Isolated Glucocorticoid Deficiency (FGD) due to Mutations in MC2R and MRAP Genes

Ozbek Mehmet Nuri , Karaşin Nezehat Doğan , Demirbilek Huseyin , Demiral Meliha , Baran Rıza Taner , Guran Tulay

Objectives: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized with isolated glucocorticoid deficiency. Melanocortin receptor 2 (MC2R) mediates the functions of adrenocorticotropic hormone (ACTH) in the adrenal cortex. MC2R accessory protein (MRAP), a transmembrane protein, involves in the trafficking of MC2R to the cell surface. Mutations in MC2R and MRAP genes cause FGD type 1 and 2. Herein, we ev...

hrp0089p1-p258 | Thyroid P1 | ESPE2018

Thyroid Hormone Resistance Beta: Eighteen Pediatric Patient Experience

Siraz Ulku Gul , Direk Gul , Akin Leyla , Bircan Rıfat , Tatli Zeynep Uzan , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

hrp0086lbp12 | (1) | ESPE2016

An Analysis of Symptoms and Signs of Adrenal Insufficiency in Children with CAH Admitted to Hospital in Australia

Chrisp Georgina , Maguire Ann , Quartararo Maria , Falhammar Henrik , Hameed Shihab , King Bruce , Munns Craig , Torpy David , Rushworth R. Louise

Background: An adrenal crisis (AC) is a life-threatening complication of congenital adrenal hyperplasia (CAH). Despite modern therapies, children with CAH still present with symptomatic adrenal insufficiency (AI) and AC.Objective and hypotheses: The aim of the study was to determine the spectrum of symptoms and signs of AI in children with diagnosed CAH who were admitted to hospital for an acute illness, as well as to evaluate the use of stress dosing an...