CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

I Turan, BI Hutchins, B Hacihamdioglu… - The Journal of …, 2017 - academic.oup.com
Context: Gonadotropin-releasing hormone neurons originate outside the central nervous
system in the olfactory placode and migrate into the central nervous system, becoming integral …

Changes in the presentation of newly diagnosed type 1 diabetes in children during the COVID-19 pandemic in a tertiary center in Southern Turkey

SÖ Dilek, F Gürbüz, İ Turan, C Celiloğlu… - Journal of Pediatric …, 2021 - degruyter.com
Objectives The COVID-19 pandemic is a global health problem with high morbidity and
mortality. This study aimed to investigate patients who were diagnosed with type 1 diabetes …

21-hydroxylase deficiency: mutational spectrum and genotype–phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe …

I Turan, M Tastan, DD Boga, F Gurbuz, LD Kotan… - European Journal of …, 2020 - Elsevier
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is autosomal
recessive disorder of cortisol biosynthesis. Genetic defects in CYP21A2 cause 21OHD. …

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

LD Kotan, E Isik, I Turan, E Mengen, G Akkus… - Clinical …, 2019 - Wiley Online Library
Idiopathic hypogonadotropic hypogonadism (IHH) can be divided into two major forms,
normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible for the majority …

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance

I Turan, LD Kotan, M Tastan, F Gurbuz… - Clinical …, 2018 - Wiley Online Library
Background and Aim Hypoaldosteronism is associated with either insufficient aldosterone
production or aldosterone resistance (pseudohypoaldosteronism). Patients with aldosterone …

[HTML][HTML] Genetic etiology of idiopathic hypogonadotropic hypogonadism

AK Topaloglu, I Turan - Endocrines, 2021 - mdpi.com
Idiopathic hypogonadotropic hypogonadism (IHH) is a group of rare developmental
disorders characterized by low gonadotropin levels in the face of low sex steroid hormone …

[PDF][PDF] Idiopathic hypogonadotropic hypogonadism caused by inactivating mutations in SRA1

…, F Gürbüz, E Mengen, İ Turan… - Journal of clinical …, 2016 - jag.journalagent.com
Objective: What initiates the pubertal process in humans and other mammals is still unknown.
We hypothesized that gene (s) taking roles in triggering human puberty may be identified …

Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic …

…, G Ternier, AD Cakir, HC Emeksiz, I Turan… - Genetics in …, 2021 - nature.com
Purpose Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent
puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. …

Clinical features of generalized lipodystrophy in Turkey: a cohort analysis

…, MC Unal, G Gungor Semiz, I Turan… - Diabetes, Obesity …, 2023 - Wiley Online Library
Aim To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of
each complication and the death rate during the period of the follow‐up. Methods This study …

[HTML][HTML] POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

…, C Gokce, G Catli, F Bugrul, K Bartlett, I Turan… - Frontiers in …, 2023 - frontiersin.org
Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of
pubertal development and subsequent impaired fertility often due to gonadotropin-releasing …