Endocrine Abstracts

Introduction: Pendred syndrome is a rare autosomal recessive disease and the classic triad is congenital sensorineural hearing impairment, goiter and impaired iodine organification with abnormal perchlorate discharge test, but hypothalamic tumors are not a feature of this syndrome.Case report: We report a case of a 32-year-old female with Pendred syndrome confirmed by genetic testing and perchlorate discharge test, with goiter, hypothyroidism treated wit...

Introduction: Liquid silicone is an inert material that as minimal local tissue reaction, but it is the systemic complications, such as silicone embolism and acute respiratory distress syndrome (ARDS) that carry the highest associated morbidity. Liquid silicone is frequently used for illegal cosmetic procedures in transsexual patients, and the most common injection sites are the hips, buttocks, face and breasts.We report a case of silicone embolism with ...

Turner’s Syndrome is one of the most common chromosomal abnormalities found in 1 in 2500 live female births. Y chromosome material is detected in up to 6% of patients by karyotype, but with new technologies (DNA analysis), Y chrmosome sequences have been reported in 60% of patients. The presence of Y material has been associated with virilization and with the development of gonadal neoplasia.Aim: Determine the frequency of Y chromosome sequences in ...

Introduction: Gestational diabetes (GD) is a known risk factor for delivery, fetal and perinatal complications. Fetal male sex is known to be associated with worse perinatal outcomes, such as macrosomia, neonatal hypoglycemia, low Apgar scores, birth defects and mortality. However, studies evaluating the impact of fetal sex on perinatal outcomes in women with GD are scarce. Objectives: We aimed to study whether male newborn sex is associated with neonata...

Introduction: Women with gestational diabetes (GD) have an increased risk of developing future type 2 diabetes mellitus (T2DM). A reclassification oral glucose tolerance test (OGTT) is currently recomended in the postpartum period. However, most studies report a compliance rate below 50% and as low as 23%.Objectives: We aimed to study predictors of missing postpartum OGTT in women with GD.Materials and Methods: Retrospecti...

Introduction: There are several known risk factors for gestational diabetes mellitus (GDM), a condition associated with worse pregnancy outcomes. Once GDM is established, the association between the presence of GDM risk factors and pregnancy outcomes is less well-known. We studied the association between the number of GDM risk factors and pregnancy outcomes in a population of women with GDM.Methods: Retrospective study of the Portuguese multicentre GDM r...

Introduction: Adrenocortical carcinoma (ACC) is a rare and potentially fatal disease in childhood. Complete resection of the tumor and metastasis can improve survival. Case: A 2.6 year-old boy presented isosexual pseudo-precocious puberty at 2.1 years. CT revealed a single nodule in the left adrenal (2 cm) which was resected by adrenalectomy. Histology revealed an adrenocortical tumor (2 cm, 3.0 g, Weiss score 4), ENSAT stage I. Partial regression of the puberty features and n...