Endocrine Abstracts

Introduction: Turner syndrome (TS) is a genetic disease, attributable to the total or partial loss of an X chromosome. The classic phenotype encompasses short stature, hypergonadotropic hypogonadism and dysmorphic features. It’s also associated with other conditions such as autoimmune (AI) diseases. Aim: Herein we aim to determine the frequency of AI diseases in TS and to identify the genetic variants of TS mostly associated with this latter conditi...

Introduction: Hyperprolactinemia is a relatively frequent finding. A wide range of conditions can be responsible of this biochemical abnormality. Herein we report a rather rare etiology of hyperprolactinemia which is Turner syndrome (TS).Methods: Aiming to determine the frequency of hyperprolactinemia in patients with TS, we enrolled a retrospective descriptive study in the department of Endocrinology at the Hedi Chaker Hospital. We included patients who...

Introduction: Congenital Hypothyroidism is the principal cause of preventable mental retardation. It is due to Thyroid dysgenesis in 85% of the cases and in 15% to thyroid dyshormonogenesis.Methods: We conducted a prospective study including 17 patients with familial congenital hypothyroidism due to thyroid dyshormonogenesis other than the features of thyroid gland by ultrasound. Other than the phenotype we evaluated the functionality by thyroid Scintigr...

Introduction: Thyroid dyshormonogenesis represents 15% of congenital hypothyroidism. It is a genetic disorder due to a trouble of Thyroid hormones synthesis. it implies many factors involved in this process mainly TPO Enzyme and NIS channel.Methods: We conducted a prospective study including 17 patients with Congenital Hypothyroidism belonging to 4 consanguine multigenerational Tunisian families. The thyroid dyshormonogenesis was diagnosed based on clini...

Objective: To assess the prevalence of obesity and metabolic disorders in patients with non-functional pituitary adenomas (NFPA)Patients and methods: A retrospective descriptive study of 35 patients followed for NFPA between 2000 and 2022. Metabolic syndrome was established according to the National Cholesterol Education Program Adult Treatment Panel III criteria.Results: The mean age was 52.1±11.4 years, with a male predomina...

Background and aim: The management of Congenital Growth hormone deficiency (CGHD) is based on hormonal substitution with recombinant GH. The stature prognosis may be affected by several clinical, genetic, and therapeutic factors. This study aims to assess the predictive clinical factors of stature gain in CGHD-treated patients.Patients and Methods: We conducted a retrospective study (1991–2019) at the Endocrinology department of Hedi Chaker Universi...

Background and Aim: Non-functioning pituitary adenoma (NFPA) is the second most common subtype of pituitary adenomas. This study aims to detail the clinical and biological particularities of NFPA in the Tunisian population.Patients and Methods: A retrospective descriptive study of 35 patients followed for NFPA was conducted between 2000 and 2022 at the endocrinology Department of Hedi Chaker University Hospital, Sfax, Tunisia.Resul...

Objective: To determine the prevalence and the associated factors of pituitary apoplexy (PA) in non-functional pituitary adenomas (NFPA). Patients and Methods: A retrospective analytical study of 35 patients followed for NFPA between 2000 and 2022 was conducted at our institution. A pituitary magnetic resonance imaging (MRI) scan was performed in all patients.Results: The mean age was 52.1±11.4 years, with a male predominance (6...

Objective: To assess the management and therapeutic outcomes of non-functioning pituitary adenomas (NFPA) in the Tunisian population.Patients and Methods: We conducted a retrospective descriptive study of 35 patients followed for NFPA between 2000 and 2022 at the endocrinology department of Hedi Chaker University Hospital.Results: The mean age was 52.1±11.4 years, with a male predominance (61.3%). The majority of tumors were bet...

Introduction: Pseudohypoparathyroidism (PHP) type 1a is a genetic disorder associated primarily with resistance to parathyroid hormone (PTH). Its pathogenesis has been linked to dysfunctional G-protein-mediated signaling. Since the G unit is an ubiquitary protein, its mutation can lead to variable hormonal dysfunction. In this context we report the case of a patient followed in our department for multihormone resistance.Case report: A 9 years old boy, bo...