Endocrine Abstracts

We aimed to identify causal mutation(s) in 2 patients (P1 and P2) with thyroid dyshormonogenesis (TD) from a consanguineous Tunisian family. Patient P1 developed TD at age 10; while P2 developed it at a late age (30 years) with no goiter. Scintigraphy showed homogeneous uptake of 131I in P1 patient. Genetic analysis was performed using candidate gene approach. Thus, sequencing of the 17 exons of the TPO gene revealed only presence of rs4927611 polymorphism ...

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...

Introduction: Pretibial Myxedema(PM) and acropachy(AP) are rare extrathyroidal manifestations of Graves’ disease observed only in 0.5–4% of all cases. These extrathyroidal manifestations are generally associated to severe ophtalmopathy. Only few cases of severe thyroid dermopathy and achropachy occurring with moderate ophtalmopathy were reported.Observation: We present a 60years old female patient who developed grave’s disease on a pre-exi...

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in in the soft tissue in the periarticular location outside the joint capsule.Case report: This girl presented at the age of 10 years with swelling and pain in the right hip region. On examination a 10×10 cm hard, non-tender swelling wi...

Introduction: Ectopic location of the parathyroid glands has been described in 10-15% of patients with hyperparathyroidism. Upper cervical localization is exceptional and may be missed by preoperative localization techniques. We report a rare case of parathyroid adenoma of the upper jugulo-carotid region.Observation: A 41-year-old woman with no notable pathological history presented diffuse osteoarticular pain. Physical examination showed a right superio...

Introduction: Unequivocal evidence for the benefit of MDI, the analogs and CSII-treatment in children is lacking. This study assesses the effects of insulin pump (CSII) vs pens in treating children with type 1 diabetes for more than 2 years.Research design and methods: Diabetes control and anthropometric data of 94 children with type 1 diabetes who were on continuous s.c. insulin therapy using insulin pump were compared with those for 40 children with ty...

Autoimmune thyroid diseases (AITD), which include Hashimoto thyroiditis (HT), Graves’ disease (GD) and primary idiopathicmyxoedema (PIM), are recognized by their clinical and genetic heterogeneity. In this study, we have carried on a global approach gathering 20 year genetic and clinical data on a Tunisian multigenerational family (Akr). Our purpose was search for a combined genotype involved in AITD susceptibility using 33 gene polymorphisms. The Akr pedigree is composed...

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...

Vocal morbidity related to the external branch of the superior laryngeal nerve following thyroidectomyObjectives: Damage to the external branch of the superior laryngeal nerve (EBSLN) can cause a vocal morbidity following thyroidectomy. However its diagnosis is challenging. Here we aim to determine the vocal, endoscopic and acoustic characteristics of a damage of the EBSLN as well as factors associated to its occurrence.Materials a...

Objectives: Vocal alteration can occur following thyroidectomy with or without a damage of laryngeal nerves. Multiple factors can increase the risk of vocal alteration. We aim to determine the impact of surgery extent on vocal symptoms and endoscopic and acoustic findings.Materials and methods: In this prospective study, we evaluated the vocal alteration in patients undergoing a partial (PT) or total thyroidectomy (TT). We performed a vocal assessment pr...