hrp0095p1-365 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Etiology and Clinical Features in Childhood Panhypopituitarism

Döğer Esra , Öner Ganimet , Bideci Aysun

Introduction: Panhypopituitarism is a deficiency of two or more pituitary hormones. Etiological causes of panhypopituitarism include pituitary developmental disorders, traumatic damage, inflammatory and neoplastic diseases affecting the pituitary, and vascular disorders. In this very rare condition, symptoms and signs related to anterior and posterior pituitary hormone deficiency can also be seen, as well as symptoms and findings related to etiological factors...

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...

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...

hrp0095p1-222 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Infantile Hypercalcemia Type 2 Due to Novel Mutation in SLC34A1 Gene

Öner Ganimet , Döğer Esra , Ceylaner Serdar , Kayhan Gülsüm , Bideci Aysun , Orhun Çamurdan Mahmut

Introduction: The SLC34A1 gene encodes the NaPi-IIa cotransporter, which plays an important role in phosphate reabsorption in the kidney proximal tubule. Inactivating mutations of this gene cause nephrolithiasis and osteoporosis, together with clinical pictures such as hypophosphatemic rickets type 1, Fanconi renotubular syndrome type 2, and infantile hypercalcemia type 2.Case: A 40-day-old male patient presented with me...

hrp0095p1-520 | Growth and Syndromes | ESPE2022

A Case of Familial Short Stature: A Novel Variant of ACAN

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

hrp0095p1-521 | Growth and Syndromes | ESPE2022

Case with Hoxa Gene Cluster Delete

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...

hrp0095p1-384 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

17 Β-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood

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

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...