Endocrine Abstracts

We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of linkage with the TPO gene. Sequencing of its 17 exons and their flanking intron-ex...

Introduction: The composite pheochromocytoma is a rare adrenal medullatumour that combines a pheochromocytome and a neuroblastic tumour. We present the case of a composite phenochromocytoma discovered in a patient with neurofibromatosis type 1.Case report: Patient aged 64 years referred to our department by his dermatologist for the exploration of a left adrenal mass discovered during the practice of a CT scan and then an 18F-FDG MRImade as part of an ex...

Introduction: Juvenile primary hyperparathyroidism represents more severe form of the disease, often with organ damages. Genetic mutation and paarthyroid hyperplasia are more frequent than in adults.Case report: 20–year–old patient with familial history of kidney stone. She was hospitalized for major hypercalcemia at 3.65 mmol/l (2.2–2.6 mmol/l) discovered on daily chronic vomiting and alteration of the general condition. The biological...

Intoduction: Pitiutary tumor is considered as the first etiology responsable of secondary hypopituitarism. Hypogonadotropic hypogonadism is the most commonly reported lesion.Meterials and methods: It is a retrospective study including 77 cases of prolactinoma. The data collection was done over 17 years, between 2000 and 2017.Results: Gonadotropic deficiency was confirmed in 48 patients (63.6%). A significant negative correlation wa...

Background: Azoospermia is present at approximately 1% of the man. karyotype can show number and structure abnormalities of the sexe chromosomes.Case: 16 years old boy,who was refered to the departement of endocrinology for a failure to growth since 8 years old. This patient was resulting from a marriage between blood relations. He had a congenital bilateral hip luxation diagnosed since birth but untreated.He had a gait disorder with a low weight 32 kg &...

Introduction: Giant prolactinomas (GP), defined as prolactinomas ≥4 cm in maximum dimension, are uncommon, with reported prevalence of 2 to 3% of all prolactinomas. Aim: The aim of this study is to describe clinical and paraclinical characteristics of GP and to identify predictors of therapeutic response.Matherials and methods: A retrospective, single-center, descriptive study including 18 patients with GP followed at the end...

Introduction and aim: Dopamine agonists (DA) are prescribed as first-line treatment for prolactinomas and are generally effective and well tolerated. However, the degree and quickness of therapeutic response is variable among patients. The aim of this work is to study the predictive factors of biological remission in patients with prolactinoma treated with DA. Methods: A single-center, retrospective and analytical study of patients with prolactinoma foll...

Introduction: Immunotherapy is an effective therapeutic choice increasingly prescribed in oncology. Endocrine toxicity is described among its side effects.Methods: A case of a patient treated with immunotherapy since January 2022 is hospitalized in the endocrinology department in Bichat Hospital.Results: Mr K, aged 46, treated with of anti-CTA4 and anti-PD1 inhibitors for melanoma. A month after the treatment the findings showed an...

Background: Fibroscan is a noninvasive medical dispositive for the evaluation of hepatic fibrosis based on the technique of pulse elastography. However, the interpretation of its value depends on several parameters.Objective: The purpose of our work is to study the impact of diabetes on the value of liver fibroscan and to identify possible factors influencing this value in diabetics.Materials and methodes: Our work is a cross-secti...

Introduction: Prolactinoma is the most common secretory pituitary adenomas. It has clinical and biological characteristics that depend on age, gender and tumor size. Prolactinoma of the old subject is a rare clinical form that was not sufficiently treated in the literature.Materiels and methods: It is a retrospective study including 77 cases of prolactinoma among which 3 cases aged over than 65 years. The collection of data was made between 2000 and 2017...