hrp0086p2-p439 | Gonads & DSD P2 | ESPE2016

17 Alpha Hydroxylase, 17–20 Lyase Deficiency, a Case with Hypocalcemic Symptoms

Akbas Emine Demet , Doger Esra , Ugurlu Aylin Kilinc , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

17 alpha hydroxylase, 17–20 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination...

hrp0082p3-d1-627 | Adrenals & HP Axis | ESPE2014

A Rare Cause of Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency: a Case Report

Cinaz Peyami , Cihan Emeksiz Hamdi , Celik Nurullah , Doger Esra , Yuce Ozge , Camurdan Orhun , Bideci Aysun

Background: P450 oxidoreductase (POR) deficiency is the newest form of congenital adrenal hyperplasia first described in 2004. POR is a protein that transfers electrons from NADPH to all 50 microsomal forms of cytochrome P450. Mutations that cause POR deficiency result in partial deficiency of the enzymes 21-hydroxylase and 17α-hydroxylase. Remarkable clinical features of the POR deficiency are genital ambiguity in both sexes, glucocorticoid deficiency and Antley-Bixler s...

hrp0084p3-634 | Autoimmune | ESPE2015

Stevens Johnson Syndrome in a Case with Type 1 Diabetes Mellitus: Relation or Coincidence?

Akin Onur , Doger Esra , Demet Akbas Emine , Bakirtas Arzu , Camurdan Orhun , Bideci Aysun , Cinaz Peyami

Background: Stevens-Johnson syndrome (SJS) is an acute life-threatening dermatosis characterised by conjunctivitis, oral ulcerations, fever, and erythematous macules. The most important etiological factors are infections and drugs including anticonvulsants and nonsteroidal anti- inflammatories.Objective and hypotheses: Cases with both SJS and type 1 diabetes mellitus have been reported rarely in the literature. Herein, we report a diabetic case of recurr...

hrp0095p1-158 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Clinical Findings and Endocrine Follow-up of Childhood Craniopharyngioma Cases

Öner Ganimet , Döğer Esra , Bideci Aysun , Orhun Çamurdan Mahmut

Introduction: Craniopharyngioma is a low malignant potential tumor of embryological origin of the sellar/suprasellar region. It occurs with various symptoms and signs such as headache, vomiting, vision loss and endocrinological disorders. It was aimed to evaluate the presentation findings and endocrinological disorders in the follow-up in childhood craniopharyngioma cases.Methods: The patients followed up with the diagno...

hrp0095p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Cerebello- Oculo- Fascio-Genital Syndrome and Scrotal Agenesis with MAB21L1 Mutation; Case Report

Nalçacı Sinem , Döğer Esra , Kaya Cem , Mahmut Orhun Çamurdan , Bideci Aysun

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

hrp0092p3-56 | Diabetes and Insulin | ESPE2019

Long-Term Honeymoon Period in Type 1 Diabetes: True Diagnosis MODY5; New Mutation of HNF1B

Bideci Aysun , Küpçü Zekiye , Döğer Esra , Çamurdan Orhun , Cinaz Peyami

Introduction: MODY is an autosomal dominant inherited type of diabetes that has been diagnosed before the age of 25 and caused by pancreatic β-cell dysfunction. HNF1B-MODY is more rare than other MODY causes and its frequency is between 1-5%. Mutations in HNF1B (MODY 5) are associated with pancreatic agenesis, kidney anomalies, genital system malformations and liver dysfunction.Case: The patient is 8 years 2 ...

hrp0086p1-p249 | Diabetes P1 | ESPE2016

Autoimmune Limbic Encephalitis Associated with Type 1 Diabetes Mellitus

Kilinc Ugurlu Aylin , Doger Esra , Demet Akbas Emine , Akin Onur , Arhan Ebru , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

Background: Limbic encephalitis (LE) is a neurological disorder characterized with amnesia, seizures, personality changes. LE is usually considered as paraneoplastic disorder. Infections, paraneoplastic disorders and autoimmunity should be considered in LE etiology. Association of type 1 diabetes mellitus and LE is very rare. Here in we report a patient who was diagnosed with type 1 diabetes mellitus (T1DM) six months after LE occurrence.Case: A 17-year-...

hrp0086p2-p782 | Pituitary and Neuroendocrinology P2 | ESPE2016

Early Puberty; Diagnosis, Treatment and Prognosis

Misirli Ebru , Bideci Aysun , Doger Esra , Akbas Emine Demet , Akin Onur , Ugurlu Aylin Kilinc , Camurdan Orhun , Cinaz Peyami

The aim of this study was to evaluate the diagnosis at the first examination and last visit, etiology, prognosis, clinical properties of girls referred to the pediatric outpatient clinic with a presumptive diagnosis of early puberty for ten years and defining the effect of treatment on final height (FHt). In this single-center study, we included 1330 patients who were diagnosed during the years 2004–2014. History, anthropometric data, bone age (BA), hormones and pelvic ul...

hrp0082p1-d2-70 | Diabetes (1) | ESPE2014

Evaluation of Subclinical Atherosclerosis by Non-Invasive Radiological Methods and its Relation with Endoglin and Nitric Oxide Levels

Emeksiz Hamdi Cihan , Bideci Aysun , Celik Nurullah , Yuce Ozge , Doger Esra , Damar Cagr , Boyunaga Oznur , Camurdan Orhun , Cinaz Peyami

Background: Endothelial dysfunction is thought to be a key event in the development of atherosclerosis. Demonstration of increased endoglin expression in atherosclerotic plaques suggested participation of endoglin in atherogenesis. Endoglin expression was also related to nitric oxide (NO) production in endothelium.Objective and hypotheses: Aim of the study was to evaluate the subclinical atherosclerosis in adolescents with type 1 diabetes mellitus (T1DM)...

hrp0084p2-560 | Thyroid | ESPE2015

A Rare Adverse Effect of Methimazole: Serum Sickness

Akbas Emine Demet , Bideci Aysun , Akin Onur , Yuce Ozge , Doger Esra , Bakirtas Arzu , Camurdan Orhun , Cinaz Peyami

Background: Serum sickness should be considered for the symptoms such as fever, arthralgia and urticaria existing 2–3 weeks after drug administration. Serum sickness is prototype of type 3 hypersensitivity reactions. Nephropathy and vasculitis may occur and main finding is hypocomplementemia. Several drugs such as antibiotics were reported as the reason of serum sickness disease.Objective and hypotheses: According to our knowledge, herein we report ...