hrp0084p3-625 | Adrenals | ESPE2015

‘Reexpansion’ of Testicular Tissue after Testis-Sparing Surgery in an Adolescent

Sen Yasar , Cimbek Emine Ayca , Yuca Sevil Ari , Ciftci Ilhan , Bugrul Fuat

Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.Method: A 13 -year-old...

hrp0084p3-816 | Endocrine Oncology | ESPE2015

Von Hippel-Lindau Disease in an Adolescent with a Newly Described Alteration in the VHL Gene

Yuca Sevil Ari , Cimbek Emine Ayca , Sen Yasar , Bugrul Fuat , Kose Dogan , Koksal Yavuz

Background: Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by susceptibility to tumours including haemangioblastomas of retina and central nervous system, renal cell carcinoma and phaeochromocytomas. The disease is caused by mutations in the VHL tumour suppressor gene.Objective and hypotheses: We present an adolescent with VHL disease confirmed by genetic analysis which revealed the mutation p. A149P (PCC>GCC), which ...

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...

hrp0092p1-116 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

How to Approach Systemic Hypersensitivity reactions to Gonadotropin Releasing Hormone Analogues during treatment of Central Precocious Puberty

Kirkgoz Tarik , Karakoc Elif Aydiner , kiykim ayca , Bugrul Fuat , helvacioglu didem , eltan sevgi bilgic , kasap nurhan , ozen ahmet , baris safa , guran Tulay , bereket abdullah , turan serap

Background: Hypersensitivity reactions to gonadotropin releasing hormone analogues (GnRHa) is a rare but serious side effect . Besides, local reactions, urticaria, anaphylaxis, serum disease, Henoch Schonlein Purpura (HSP) have been reported during GnRHa treatment.. Clinicians should be aware of the potential association of GnRHa with systemic hypersensitivity reactions.Case reports: Here, we report nine girls with syste...

hrp0094p1-2 | Adrenal A | ESPE2021

Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency

Seven Menevse Tuba , Demirkol Yasemin Kendir , Tosun Busra Gurpinar , Bayramoglu Elvan , Yildiz Melek , Acar Sezer , Karaca Seda Erisen , Orbak Zerrin , Onder Asan , Sobu Elif , Anik Ahmet , Atay Zeynep , Bugrul Fuat , Demir Korcan , Dogan Durmus , Emeksiz Hamdi Cihan , Kirmizibekmez Heves , Murat Nurhan Ozcan , Yaman Akan , Turan Serap , Bereket Abdullah , Guran Tulay ,

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...