hrp0097rfc5.2 | Diabetes and insulin 1 | ESPE2023

Comparison of Optical Coherence Tomography Angiography Findings in Children with Type 1 Diabetes Mellitus and Autoimmune Thyroiditis with Healthy Children

Anıl Korkmaz Hüseyin , Devebacak Ali , Mert Erbaş ibrahim , Değirmenci Cumali , Uyar Nilüfer , Afrashi Filiz , Özkan Behzat

Aim: The study aimed to assess the development of early diabetic retinopathy (DR), one of the microvascular complications, in patients with isolated type 1 diabetes mellitus (DM) (group 1), type 1 DM with a diagnosis of autoimmune thyroiditis (AT) (group 2), and healthy controls (group 3), which were matched for age, sex, number, and body mass index for comparison.Methods: In this prospective and observational study, gro...

hrp0097p1-168 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Parental perceptions and concerns in a cohort of infants with unoperated hypospadias

L. Leunbach Tina , Ernst Andreas , Wisniewski Amy , Berglund Agnethe , H. Gravholt Claus , Faisal Ahmed Syed , M. Hvistendahl Gitte , F. Rawashdeh Yazan

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...

hrp0097p1-391 | Thyroid | ESPE2023

Molecular Genetic Causes In Elevated TSH: Frequency And Genotype-Phenotype Characteristics

Gül Balki Hanife , Parıltay Erhan , Özalp Kızılay Deniz , Gökşen Damla , Darcan Şükran , Özen Samim

Introduction: The most common cause of elevated TSH is iodine deficiency, and other common causes are drug use, systemic diseases, and underlying genetic conditions.Objective: We aimed to investigate molecular genetic etiology, genotype-phenotype relationships and the follow-up data in cases with elevated TSH initiated on L-thyroxine treatmentMethods: We retrospectively evaluated c...

hrp0097lb14 | Late Breaking | ESPE2023

Prevalence and risk factors of bone problems in children with supratentorial midline Low Grade Glioma.

van Roessel IMAA , Gorter JE , Bakker B , van den Heuvel - Eibrink MM , Lequin MH , van der Lugt J , Meijer L , Schouten - van Meeteren AYN , van Santen

HM

Introduction: Children with cancer are at increased risk of endocrine complications, especially children with a brain tumor. One of these late effects includes bone disorders (ranging from low bone mineral density (BMD) to osteoporosis). Children with a suprasellar Low Grade Glioma (LGG) may be especially at risk for bone problems due to exposure to multiple treatment modalities, hypothalamic dysfunction and/or decreased mobility in combination with vision los...

hrp0097p2-160 | Adrenals and HPA Axis | ESPE2023

Factors Influencing the Final Height of Congenital Adrenal Hyperplasia Patients

Gül Balkı Hanife , Arslan Emrullah , Jalilova Arzu , Özalp Kızılay Deniz , Özen Samim , Gökşen Damla , Darcan Şükran

Introduction: CAH is a common clinical condition with treatment and follow-up challenges. As a result, the adult height of the cases is known to be affected. We aimed to assess the growth and pubertal development of CAH patients and the factors that influence final height.Method: Between 1980-2022, 41 patients diagnosed with CAH were observed at our clinic. Only cases that attained the final height were retrospectively a...

hrp0082fc11.1 | Pituitary | ESPE2014

Abnormal Sonic Hedgehog Signalling in Adamantinomatous Craniopharyngiomas and its Association with CTNNB1/β-Catenin Mutations

Gomes Debora C , Jamra Soraya A , Leal Leticia F , Colli Leandro M , Juca Carlos E , Campanini Marina L , Oliveira Ricardo S , Martinelli Carlos E , Elias Paula C L , Saggioro Fabiano , Machado Helio R , Moreira Ayrton C , Serafini Luciano N , Castro Margaret , Antonini Sonir R

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

hrp0094p2-423 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Diagnostic dilemma in a patient with central precocious puberty: Ovarian steroid cell tumor

Balki Hanife Gül , Ata Aysun , Karayazılı Ayşe Merve , Serin Gürdeniz , Koç Gonca , Özdemir Necmettin , Çelik Ahmet , Özen Samim , Gökşen Damla , Darcan Şükran

Ovarian steroid cell tumors (OSCT) are rare sex cord stromal tumors of the ovary and comprise <0.1% of all ovarian tumors. We herein report a case of an OSCT in a 9 year old girl patient who presented with central puberty preocious unresponsive to gonadotrophine relasing hormon analog (GnRH) therapy. A 9 year old girl presented with breast development noticed 4 months ago and menarche 3 months ago. Her height was 141,5 cm (+1,3 SDS), body weight was 35.4 kg (+0.9 SDS) and...

hrp0097p1-9 | Adrenals and HPA Axis | ESPE2023

The @MATES4Kids Movement: Reducing Preventable Mortality Associated with Congenital Adrenal Hyperplasia (CAH) by 30% by 2030

Armstrong Kate , Auste Carmen , Calzada León Raúl , Chanoine Jean-Pierre , L. Claahsen Hedi , E. Craig Maria , Deeb Asma , Yazid Jalaludin Muhammad , Matos Dina , Mayrdorfer-Muhr Marika , Meschede Johanna , Pulungan Aman , N. Seneviratne Sumudu , E.J. Stafford Diane , Duran Ventura Paola , K. Boddu Sirisha , Atapattu Navoda , Raza Jamal , Ibrahim Mohsina , Musa Salwa

Background: Children living with paediatric endocrine conditions in resource-poor countries experience inequitable rates of preventable mortality and morbidity. Reducing preventable mortality will help member states committed to delivering on the United Nations’ Sustainable Development Goals 3.2.1, 3.2.2 and 3.4. CLAN (Caring & Living As Neighbours) has been improving health outcomes for children living with CAH in resource poor countries since 2004,...

hrp0095p1-5 | Adrenals and HPA Axis | ESPE2022

Urinary steroid metabolite ratios: sex- and age-dependent changes and use for the differential diagnosis of inborn steroidogenesis disorders

S. Baranowski Elizabeth , Guran Tulay , C. Gilligan Lorna , Shaheen Fozia , Utari Agustini , M.H. Faradz Sultana , E. Van Herwaarden Antonius , L. Claahsen - van der Grinten Hedi , E. Taylor Angela , H.L. Shackleton Cedric , Arlt Wiebke

Background: Biochemical ratios of precursor-to-product urinary steroid metabolites have been proposed as surrogate markers of steroidogenic enzyme activity to aid the differential diagnosis of inborn disorders of steroidogenesis. Using ratios rather than total amounts facilitates analysis of single spot urine samples, more convenient than 24-h urine collections for young children. Previous studies examining the utility of these biochemical ratios have been lim...

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

Kağızmanlı Akın , Besci Özge , Yüksek Acinikli Kübra , Şeker Gül , Yaşar Elif , Öztürk Yeşim , Demir Korcan , Böber Ece , Abacı Gözde Ayhan

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...