ESPE Abstracts

Aim: Pituitary hypoplasia, empty sella syndrome, and ectopic neurohypophysis are common causes of pituitary MRI of the patient with congenital hypopituitarism. We aimed to search clinical and radiological examination of the patient with congenital hypopituitarism.Method: We evaluated age, diagnosis, laboratory evaluation, hormone deficiencies, accompanying diseases, and MR images of the patients with multiple pituitary hormone deficiency.<p class="ab...

Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two ...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Aim: Acrodysostosis is a rare genetic syndrome characterized by small hands and feet with short, stubby fingers and toes, cone shaped epiphyses, broad nasal root, various abnormalities of mandible, skull, and vertebra, short stature, and mental retardation. Because of the hormone resistance that would accompany, acrodysostosis can be confused with pseudohypoparathyroidism. Mutations of PRKAR1A and PDE4D are reported to be responsible for the disease in less t...

Introduction: Continuous Glucose Monitoring System (CGMS) takes place increasingly in the daily routines of diabetic patients. It has been shown that metabolic control improves when CGMS is used consistently. We aimed to show the effect of CGMS in patients using MDI therapyMaterials - Methods: All patients using multiple-dose insulin therapy at our center and continued their regular follow-up and using CGMS for at least three months were...

Introduction: Microarray (SNP array) method offers a powerful full genome scanning opportunity in the diagnosis of disorders of sex development (DSD).Aim and Method: We aimed to determine the copy number variations (CNVs) by using the microarray method to elucidate the molecular etiology in DSD patients. The variants found were scored according to the American College of Medical Genetics and Genomics criteria.<p clas...

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.Case report: A 15-year-old ado...

Introduction: Premature ovarian failure (POF) is defined as ovarian failure developing before the age of 40. The etiology of genetic POF is quite heterogeneous and can be due to genetic, autoimmune, environmental, viral infections or iatrogenic causes.Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic POF cases with the gene panel based on next generation sequence analysis an...