ESPE Abstracts

Background: Graves disease is the most common cause of hyperthyroidism in children. The frequency of the disease increases with age, peaking during adolescence.Thyroid storm is a rare but critical, ilness that can lead to multiorgan failure and carries a high death rate. Antithyroid drugs are usually recommended as the initial treatment and are generally well tolerated. Although current treatment options include radioactive iodine, but long term complications of thyroid irradi...

Introduction: Congenital adrenal hyperplasia is an autosomal recessive disorder characterized by enzyme deficiencies in the adrenal steroidogenesis pathway. The most common type is 21 hydroxylase deficiency and is divided into two groups as classical and nonclassical type. 75% of the classical type of cases is salt-losing type, and cortisol and aldosterone deficiency symptoms occur in patients. Female cases presented with ambiguus genitalia due to hyperand...

Introduction: Graves' disease is the most common cause of hyperthyroidism in children with autoimmune thyroid disease. Clinically, goiter, tachycardia, restlessness, craniosinostosis, hyperactivity, growth retardation, diarrhea may occur.Graves' disease is rare under 4 years of age. Treatment options include antithyroid therapy, surgery, and radioiodine therapy. The most commonly used antithyroid therapy is methimazole and has serious side effects such...

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Background: Congenital hypothyroidism (CH), the most common preventable cause of mental retardation in children, may presents with non-specific signs and symptoms. Beside, majority of the infants can be asymptomatic. Underestimation and/or misdiagnosis may cause delay in diagnosis and results in severe complications.Case report: A 5 months-old female admitted to our clinic with the history of repeated surgical operations due to the diagnosis of congenita...

Introduction: Ellis Van Creveld syndrome (EVC) is a rare condition which is characterized with disproportionate short stature, postaxial polydactyly, and dysplastic nails and teeth. It is a rare autosomal recessive disorder due to mutations of EVC 1 and 2 genes located on chromosome 4p16. EVC syndrome is a chondroectodermal dysplasia. Congenital heart defects; especially atrial septal defect and single atrium occurs in 60% of affected individuals. Here we report a 5 year-old f...

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: Hypothyroidism is frequently associated with muscular disorders and sometimes with moderately elevated levels of muscle enzymes. On the other hand, neuromuscular manifestations are rarely the only symptoms/signs present. Kocher–Debré–Semelaigne syndrome is a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy. Rhabdomyolysis due to hypothyroidism is very rare. A very high creatinine kinase level in the range seen with inflam...

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...