Endocrine Abstracts

The aim of the study was to evaluate hormonal profile in diabetic adolescent girls with menstrual disorders and compare them to regularly menstruating diabetic and healthy girls.We studied 54 adolescent girls with T1DM treated with intensive and continuous insulin therapy in the chronological age of 15.9±1.3 years and gynecological age of 33.7±16.7 months with the mean HbA1c for the last year 7.4±1.5%. In 18 (33%) girls menstrual disturban...

Introduction: Bardet-Biedl Syndrome (BBS) is an autosomal recessive disease and one of the most common causes of syndromic obesity. An excessive weight usually appears at an early age and affects almost 90% of patients. Mutations in BBS genes have been found to disrupt the function of the cilia, leading to disturbances of transduction satiety and hunger signals in hypothalamus and increased adipogenesis in the fat tissue.Methods: We present a case series...

Type II germ cell tumors are predictable complications in patients with disorder of sex development (DSD) and with Y chromosome present. The risk of tumor development varies significantly between subsets of DSD and in some cases early gonadectomy is perceived as overtreatment.The aim of the study was to analyze the gonadal tumor incidence in 45,X/46,XY and 46,XY patients who were reared as female and managed at single institution between 1997 and 2013.</...

Introduction: Joubert Syndrome (JS) is a rare ciliopathy condition, presenting distinctive cerebellar and brain stem malformation called the “molar tooth sign” (MTS) on brain imaging. Patients suffer from neonatal breathing dysregulation, developmental delay, hypotonia, abnormal eye movements. Endocrine disorders are only rarely evaluated, to date only few reports highlight the importance of hormonal evaluation.Material...