Endocrine Abstracts

Introduction: Testicular regression syndrome is defined as partial or complete absence of testicular tissue in the presence of a normal 46,XY male karyotype. This syndrome is very rare with an estimated prevalence of 1 case/20.000 males. Here we decribe a case of a testicular regression syndrome in an 18 years old patient. Case Report : We report the case of an 18 years old male patient followed for testicular regression syndrome since the age of 2, whic...

Introduction: Trigger finger is a stenosing tenosynovitis in which constriction of the tendon sheath is associated with the presence of a nodule on the flexor tendon of the finger. This is an often unrecognised complication in the diabetic patient. We report the case of a diabetic patient with a complication of trigger finger.Observation: A 55 year old female patient, known to be diabetic for 10 years and treated with a basal-bolus insulin therapy regime...

Introduction: Parathyroid adenoma can be localized in an ectopic situation, especially at the mediastinal level. The localization at the level of the RLN chain lymph node has not been reported yet.Case presentation: A 67-year-old woman without clinical signs of hyperparathyroidism, having undergone a left isthmolobectomy for a thyroid nodule suspected of being malignant, with intraoperative discovery of lymphadenopathy of the left RLN chain lymph node. T...

Introduction: Primary congenital hypothyroidism is the most common neonatal endocrine disorder, traditionally subdivided into thyroid dysgenesis, referring to a range of abnormalities in thyroid development, and dyshormonogenesis. We report two cases of dyshormonogenesis in a brother and sister followed for congenital hypothyroidism by inactivating mutation of the TSH receptor, illustrating the good evolution in case of an adapted treatment.Clinical case...

Introduction: Diabetic peripheral neuropathy (DPN) is a frequent complication of diabetes mellitus. The aim of our work is to determine the prevalence as well as the predictive factors of this degenerative complication and as a secondary endpoint the evaluation of the risk factors associated with painful diabetic neuropathy.Methods: This is a retrospective and prospective cross-sectional study with descriptive and analytical aims conducted over a period ...

Introduction: Stiff-Person Syndrome (SPS) is a rare autoimmune neurological disorder that can be associated with other autoimmune diseases including type 1 diabetes mellitus (T1DM). The presence of alternative forms of autoimmune diabetes, such as latent autoimmune diabetes in adults (LADA) in SPS, is not well described.Case Report: A 63 years old male patient, his medical and family histories were non-specific. He developed progressive rigidity in trunc...

Introduction: Pituitary stalk interruption syndrome (PSIS) is a distinct developmental defect characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic location of the neurohypophysis.Case report: A 36 years old male patient, full term born by vaginal delivery, with birth asphyxia. Birth weight was 2800 g, length was 51 cm, and no other postnatal events were noticed. Psychomotor milestones were achieved normally. h...

Introduction: Noonan syndrome (NS) is an autosomal dominant genetic disorder characterized by the combination of facial dysmorphia, short stature and congenital heart disease. The mutation of the PTPN11 gene is present in 50% of cases, recently the mutation of other genes was found, notably KRAS and SOS1. We report the case of a patient followed in our department for NS with a SOS1 gene mutation.Case report: A 4 years old male patient, referred to our de...

Introduction: Klinefelter syndrome is a sex chromosomal aneuploidy caused by an addition of X chromosome in males (47,XXY). 48,XXXY is a rare variant of this syndrome which is characterised by the presence of two additional X chromosomes in males and is estimated to occur in 1/50 000 male births. Here we describe a rare case of a 48, XXXY Klinefelter’s variant in a 17 years old patient revealed by an intellectuel development delay. Case Report : The...

Introduction: Graves’ disease (GD) is a common autoimmune thyroid disease. The association between GD and thyroid carcinoma (TC) remains controversial. We describe two patients presenting this association.Case report: Case 1 a 46 years old woman with clinical history of type 2 diabetes, she was diagnosed with Graves’ disease and multiple nodules were found in her enlarged thyroid gland by ultrasonography. The patient underwent total thyroidecto...