hrp0098p2-129 | Fat, Metabolism and Obesity | ESPE2024

Evaluation of genetic etiology and genotype-phenotype association in endogenous obesity

Koçyiğit Esra , Hürmüzlü Közler Selen , Gürpınar Gözde , Böke Koçer Gizem , Tuğçe Aygün Sibel , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Many genes have now been identified in which rare, high penetrant variants cause obesity, accounting for ~10% of children with severe obesity.Aim: To describe clinical characteristics, genetics, and associated comorbidities in pediatirc endogenous obesity due to rare genetic obesity syndromes.Methods: After excluding patients with obesity due to endocrine disturbances...

hrp0098p2-224 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Successful Experience with Tolvaptan in Syndrome of Inappropriate Secretion of Antidiuretic Hormone

Akın Agâh , Döğer Esra , Tuğçe Tunca Küçükali Elif , Mutlu Karakaş Nazmi , Vural Özge , Kılınç Uğurlu Aylin , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Euvolemic hyponatremia is a typical feature of the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Excessive secretion of antidiuretic hormone (ADH) leads to activation of the type 2 vasopressin receptor (AVPR2) in the kidneys, which plays a role in concentrating urine. Etiologies of SIADH include cranial surgery, intracranial malignancy, meningitis-encephalitis, cerebral hemorrhage, other cerebral pathologies, pulmonary path...

hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

hrp0098p1-274 | Pituitary, Neuroendocrinology and Puberty 4 | ESPE2024

Somatotropinomas in Pediatric Endocrinology Practice: Single Center Experience

Gürpınar Gözde , Uzuner Ayşe , Duman Öztürk Seda , Hürmüzlü Közler Selen , Koçyiğit Esra , Böke Koçer Gizem , Tuğçe Aygün Sibel , Gürkan Hakan , Emecen Ayyıldız Durdugül , Huw Jones Jeremy , Ceylan Savaş , Mine Çizmecioğlu Jones Filiz

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...

hrp0084p1-56 | DSD | ESPE2015

Immunohistochemical Detection of Estrogen α and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

Kopylova Irina , Orlova Elizaveta , Sysoeva Veronika , Glybina Tatyana , Kareva Mariia

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

hrp0086p1-p732 | Pituitary and Neuroendocrinology P1 | ESPE2016

Association between Estrogen Receptor Gene Polymorphisms and Premature Thelarche

Yoon Jong Seo , Lee Hae Sang , Lim Jung Sub , Hwang Jin Soon

Background: Premature thelarche (PT) is a benign, non-progressive condition defined as isolated breast development without the activation of the hypothalamic-pituitary axis. While the pathophysiology of PT remains unclear, increased sensitivity to estrogen may cause PT.Objective and hypotheses: The aim of this study was to investigate the association between polymorphisms in the estrogen receptor alpha (ERα) gene and PT in girls.<p class="abstex...

hrp0084p2-232 | Bone | ESPE2015

Regulation of Bone Growth Via Ligand-Specific Activation of Oestrogen Receptor α

Iravani Maryam , Lagerquist Marie , Ohlsson Claes , Savendahl Lars

Background: Oestrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose oestrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility.Objective and hypotheses: We hypothesised that oestrogenic ef...

hrp0086wg6.4 | ESPE Paediatric and Adolescent Gynaecology Working Group (PAG) | ESPE2016

Breast Cancer Risk in Adolescent Girls

Copson Ellen

Background: Less than 1% of breast cancer cases occur in women aged <25 years but young age at diagnosis is associated with an increased risk of recurrence and inferior survival compared to older patients. Breast tumours from young patients have an increased incidence of adverse pathological features; however it is not clear whether this fully explains poor outcomes.Objective and hypotheses: The Prospective Study of Outcomes in Sporadic and Hereditar...

hrp0082p1-d2-73 | Diabetes (1) | ESPE2014

A Novel Mutation of wfs1 Gene in a Japanese Infant of Diabetes Mellitus, Deafness, and Congenital Cataract

Morikawa Shuntaro , Nakamura Akie , Ishizu Katsura , Kumaki Satoru , Tajima Toshihiro

Introduction: Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by the association of early-onset, insulin-dependent diabetes mellitus (DM), diabetes insipidus, deafness, and progressive optic atrophy. The disease is caused by mutations of wfs1 located on 4p16 encoding peptide that is called wolframin. Wolframin is a component of the endoplasmic reticulum (ER) membrane. It is considered that mutant Wolframin might cause increased misfolded and...

hrp0084p2-434 | Gonads | ESPE2015

Confirmation of Exogenous Serum Estrogenic Activity in a Girl with Premature Thelarche

Francoise Paris , Marina Grimaldi , Charles Sultan , Patrick Balaguer

Background: The oestrogenic activity of endocrine-disrupting compounds (EDCs) has been reported to be associated with premature thelarche (PT) and precocious puberty. Some years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA) that is useful in physiology, as well as in the field of the environmental-related endocrine diseases. We recently improved the assay with an evaluation of EBA before and after incubation with estrogen recepto...