hrp0097p1-214 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Vitamin-D Dependent Rickets: a case series with presentation, clinical features and long term follow up

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Vitamin D-dependent rickets (VDDR) describes a group of genetic disorders characterized by early-onset rickets that develops due to insufficient concentration of active forms of vitamin-D or unresponsiveness to active vitamin D. The aim of this study was to share the clinical features and long-term outcome of cases followed up in our center with the diagnosis of either VDDR-Type-1 and VDDR-Type-2.Method: Pr...

hrp0097p1-223 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A rare cause of hypoparathyroidism: Barakat syndrome

Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Hürmüzlü-Közler Selen , Jones Jeremy , Mine Çizmecioğlu-Jones Filiz

Introduction: Barakat syndrome, also known as HDR syndrome (OMIM 146255), is a clinically heterogeneous, rare, autosomal dominant genetic disorder, characterized by the triad of hypoparathyroidism (H), deafness (D), and renal disease (R). The phenotypic features are attributed to mutations of the GATA3 gene, which encodes a transcription factor essential for embryonic development of the parathyroid glands, auditory system, and kidneys. Here, we report...

hrp0097p1-416 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Treatment dilemma in a prepubertal patient with ACAN mutation but without advanced bone age

Hürmüzlü Közler Selen , Gürpınar Gözde , Kilci Fatih , Koçyiğit Esra , Alanay Yasemin , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Aggrecan is a major proteoglycan component of the articular and growth plate extracellular matrix, encoded by the ACAN gene (MIM: 155760). Although short stature and various dysmorphic findings are observed in individuals with ACAN mutations, the relationship between genotype and phenotype is not clear.Case: A 6.75-year-old pre-pubertal girl presented with disproportionate short stature. She was full term f...

hrp0097p1-105 | GH and IGFs | ESPE2023

Effects of Growth Hormone Therapy on Glucose Metabolism in Children and Adolescents: 1-year follow-up results

Derya Kardelen Aslı , Kandemir Tuğçe , Demirel Özge , Tercan Ummahan , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza , Marja Ojaniemi

Introduction: It is thought that long-term growth hormone (GH) treatment may impair hepatic glucose production and insulin-dependent glucose utilization, and therefore it is attributed that GH may adversely affect glucose metabolism.Objective: In our study, we aimed to examine the effects of GH treatment on insulin sensitivity and glucose metabolism in patients with GH deficiency after 1-year of treatment.<p class="a...

hrp0097p1-126 | Growth and Syndromes | ESPE2023

A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report

Bayrak Demirel Özge , Karakılıç Özturan Esin , Derya Kardelen Al Aslı , Yıldız Melek , Poyrazoğlu Şükran , Baş Firdevs , Darendeliler Feyza

Introduction: The frequency of solid and hematological malignancies has been reported to be higher in children with Turner syndrome than in the general population. Mycosis fungoides (MF) represent the most common type of cutaneous T-cell lymphoma, which is a low-grade lymphoproliferative disease. To the best of our knowledge, the coexistence of Turner syndrome and MF has not yet been reported. Here, we report a girl with Turner syndrome and MF.<p class="ab...

hrp0097p1-529 | Growth and Syndromes | ESPE2023

A Rare Cause of Pathological Tall Stature: Luscan Lumish Syndrome

Hürmüzlü Közler Selen , Kilci Fatih , Gürpınar Gözde , Koçyiğit Esra , Jones Jeremy , Mine Çizmecioğlu Jones Filiz

Introduction: Luscan-Lumish syndrome (LLS) is a postnatal overgrowth syndrome characterized by macrocephaly, mental retardation, seizures, postnatal overgrowth, and developmental delay, caused by a heterozygous mutation in the SETD2 gene on chromosome 3p21, which exhibits autosomal dominant inheritance.Case Report: A ten-year-old girl presented with menarche. She was born to healthy non-consanguineous parents at 37 weeks...

hrp0097p1-554 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The Evaluation of Cranial Magnetic Resonance Images of Rapidly Progressive Early Puberty Cases

Kilinç Uğurlu Aylin , Özdem&idot;r Gökçe Ayse , Çakir Gündoğan Seçil , Seçil EkşİOğlu Ayşe , Boyraz

Mehmet

Purpose: We aimed to determine the frequency and distribution of intracranial pathologies in patients over 8 years of age by evaluating MRI images of patients diagnosed with early puberty-rapidly progressive.Materials and Methods: The study comprised 118 female patients diagnosed with precocious puberty (PP) and rapidly progressive early puberty (RPEP). The onset of puberty in girls before the age of 8 years is defined a...

hrp0097p1-595 | Thyroid | ESPE2023

A Case report of papillary thyroid carcinoma diagnosed at an early age

Aydın Behram Bilge , Donbaloğlu Zeynep , Barsal Çetiner Ebru , Singin Berna , Karagüzel Güngör , Ünver Tuhan Hale , Parlak Mesut

Introduct&idot;on: Thyroid cancers are rare malignancies in childhood and their incidence is between 1.5-3% among all childhood cancers. Papillary thyroid cancer (PTC) constitutes more than 90% of childhood thyroid cancers. Risk factors for thyroid cancer include; There are iodine deficiency, radiation exposure, radiotherapy to the head and neck region, and genetic predisposition. We will present an 8-year-old case who presented with a complaint of neck swelli...

hrp0097p2-141 | Adrenals and HPA Axis | ESPE2023

Pediatric Cushing Disease: a single center experience

Koçyiğit Esra , Gürpınar Gözde , Hürmüzlü Gözler Selen , Kilci Fatih , Mİne Çizmecioğlu Jones Filiz , Ceylan Savaş

Introduction: The incidence of Cushing disease (CD) is 0.7-2.4/year per million, andadolescents and children make up 10% of new cases annually. However, thesensitivity and specificity of tests used to diagnose CD in childhood may bepoor, resulting in difficulties in diagnosis and treatment. The aim was to reportpediatric CD patients attending our pituitary referral center for surgery and todescribe their diagnosis, treatment and long-term follow-up.<p clas...

hrp0097p2-214 | Adrenals and HPA Axis | ESPE2023

APECED and COVID 19: Two Case Reports

Tuğçe Tunca Küçükali Elif , Özdemir Uslu Zülal , Akın Agâh , Muratoğlu Şahin Nursel , Çetinkaya Semra

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy(APECED) is a rare autoimmune disease caused by a loss-of-function mutation in the autoimmune regulator gene(AIRE). AIRE gene mutation disrupts the negative selection of self-reactive T cells in the thymus, causing autoimmune reactions in endocrine and non-endocrine tissues. Impairment in T cell function is also associated with susceptibility to specific infections along with autoimmun...