ESPE Abstracts

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...

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...

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...

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-...

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...

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)...

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 ...

Background: Stevens-Johnson Syndrome (SJS) is an acute life-threatening dermatosis characterized 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 recurre...

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...