hrp0098p2-10 | Adrenals and HPA Axis | ESPE2024

Early Diagnosis of Adrenoleukodystrophy in Two Siblings

Karagöz Kıymet , Şeyma Eken Emine , Sadiye Karadeniz Cansu , Aslı Bala Keziban , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, caused by mutations in the ABCD1 gene localized on Xq28, affecting the adrenal cortex, nervous system, and testicular functions. It is characterized by the deficiency in transporting very long-chain fatty acids (VLCFA). We present a case of a boy diagnosed with adrenoleukodystrophy and discuss the importance of family screening, as his sibling was diagnosed th...

hrp0098p3-199 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Giant Rathke's Cleft Cyst Causing Panhypopituitarism

Sadiye Karadeniz Cansu , Aslı Bala Keziban , Erkan Emrahoğlu Muhammed , Burak Özkan Mehmet , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Introduction: Rathke's cleft cyst (RCC) is a non-neoplastic epithelial lesion of the sellar or suprasellar region. Although most RCC cases are asymptomatic, they can present with headache, visual defects, and endocrine dysfunction. We present a case diagnosed with a giant RCC postoperatively, characterized by short stature and multiple pituitary hormone deficiencies.Case: A 15-year-old male, who came with complaints...

hrp0098p2-239 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Clinical Follow-Up of a Case Diagnosed with POMC Deficiency Presenting with Hypoglycemia and Cholestasis

Sarıkaya Özdemir Behiye , Emel Eren Sümeyye , Melek Oğuz Melahat , Bakır Gizem , Sadiye Karadeniz Cansu , Şeyma Eken Emine , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Tok Ayşegül , Ataseven Kulalı Melike , Savaş Erdeve Şenay

Introduction: Central adrenal insufficiency due to isolated adrenocorticotropic hormone (ACTH) deficiency is rare. The etiology often involves homozygous or compound heterozygous mutations in genes related to the production and terminal differentiation of proopiomelanocortin (POMC). POMC deficiency is characterized by central adrenal insufficiency, early-onset obesity, red hair, and reduced skin pigmentation. Here, we present a case diagnosed with POMC deficie...

hrp0089p1-p154 | GH & IGFs P1 | ESPE2018

Early Onset GH Replacement in GH Deficiency: Is Neonatal Hypoglycemia Important for Long Term Follow-Up?

Alikasifoglu Ayfer , Emet Sadiye Dicle , Ozon Alev , Gonc Nazlı , Kandemir Nurgun

A small number of GH deficient patients can be recognized before age 3, and only few of them are diagnosed during work-up for hypoglycemia. Data comparing clinical and laboratory characteristics of hypoglycemic vs non-hypoglycemic population of children with early onset GH deficiency is scarce. The aim of this study is to assess long-term follow-up of growth hormone therapy in early onset GH deficiency, and compare pre-treatment and treatment related factors with respect to hi...

hrp0086p2-p72 | Adrenal P2 | ESPE2016

The ımpact of 21 Hydroxylase Deficiency on Cardiac Repolarization Changes in Children with 21-hydroxylase-deficient Congenital Adrenal Hyperplasia

Korkmaz Huseyin Anıl , Ozdemir Rahmi , Kucuk Mehmet , Karadeniz Cem , Meşe Timur , Ozkan Behzat

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

hrp0089p2-p358 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Persistent Mullerian Duct Syndrome: Rare But Important Aetiology of an Inguinal Hernia and Cryptorchidism in Boys

Bereket Abdullah , Bugrul Fuat , Kirkgoz Tarik , Karadeniz Cerit Kivilcim , Canmemis Arzu , Turan Serap , Picard Jean-Yves , Tugtepe Halil , Guran Tulay

Background: Anti-Mullerian hormone (AMH), secreted by immature Sertoli cells, provokes the regression of male fetal Mullerian ducts. Loss of function mutations in genes coding AMH (AMH) or its receptor (AMHRII) lead to the persistent Mullerian duct syndrome (PMDS) which is characterized by the presence of uterus, fallopian tubes, cervix and vagina in otherwise normally virilized 46,XY males. Typical clinical features along with plasma AMH levels and genotypin...

hrp0095p1-496 | GH and IGFs | ESPE2022

The Effect of Anastrozole Treatment on Height Gain in Pubertal Boys on Growth Hormone Treatment

Tarçın Gürkan , Koç Çalışgan Cansu , Turan Hande , Ercan Oya

Introduction: In children receiving growth hormone (GH) therapy during puberty, epiphyseal fusion due to sex steroids often limits the height gain. Aromatase inhibitors may seem to help at this point despite the lack of evidence. Herein, it was aimed to investigate the efficacy of anastrozole for add-on treatment in pubertal male patients receiving GH therapy.Methods: This is a retrospective study comparing two groups of...

hrp0098p1-157 | GH and IGFs 2 | ESPE2024

The Long-Term Follow-up of Growth Hormone Treatment in a Case with 2q37 Deletion, 14q32 Duplication and Alopecia Totalis

Ceren Eryilmaz Cansu , Derya Kardelen Aslı , Kale Hamdi , Dilruba Aslanger Ayca , Yıldız Melek , Bas Firdevs

Introduction: Brachydactyly mental retardation syndrome (BDMR, #MIM600430) is a rare genetic disorder caused by deletions in 2q37 region, characterised by intellectual disability, facial features, and skeletal abnormalities. This case delineates the clinical progression and growth hormone (GH) therapy response of a patient with a unique phenotype resulting from an unbalanced derivative of a paternal balanced translocation, leading to a 2q37 deletion and 14q32 ...

hrp0098p2-263 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Frasier syndrome with 46,XY gonadal dysgenesis diagnosed during etiological evaluation of nephrotic syndrome: A case report

Yanik Hasan , Koc Cansu , Sonmez Ferah , Uyanik Bulent , Derya Kardelen Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Frasier syndrome (FS) is a rare inherited disease characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in intron 9 splice donor site of the Wilms’ tumor suppressor gene 1 (WT1). It can be associated with 46,XY gonadal dysgenesis (female external genitalia with a 46,XY karyotype). Gonadoblastoma usually occurs in the second decade of life but can develop as early as 9 months of age in children with gonadal ...

hrp0084p3-1230 | Thyroid | ESPE2015

The Role of Thyroid Fine-Needle Aspiration Cytology in the Treatment and Follow-Up of Thyroid Nodules in the Paediatric Population

Genens Mikayir , Yilmaz Cansu , Ozluk Yasemin , Erol Oguz Bulent , Abali Zehra Yavas , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Firat Pinar , Bayhan Dilek Yilmaz , Darendeliler Feyza

Background: Although thyroid nodules are rare in children compared to adults, the risk of malignacy is higher. Thyroid fine-needle aspiration (FNA) is a reliable diagnostic method used in the prediction of malignancy in the evaluation of thyroid nodules together with clinical and ultrasonographic findings.Objective and hypotheses: To compare clinical, ultrasonographic, cytological and histopathological findings in patients who underwent FNA.<p class=...