Endocrine Abstracts

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: Sheehan’s syndrome or Simmond’s disease is a partial or complete postpartum hypopituitarism caused by pituitary infraction and necrosis that usually occurs as a complication of massive postpartum hemorrhage or severe hypotension during or after labor and delivery. We present the case of Sheehan’s syndrome presenting postpartum depression. Case: A 40 years old woman, referred to our department by her psychiatrist for explorati...

Introduction: Celiac disease (CD) is an autoimmune enteropathy, induced by dietary gluten in genetically predisposed subjects, which manifests itself, most often, by digestive signs but also extra-digestive signs, in particular failure to thrive (FTT), nevertheless it is necessary to remain vigilant with regard to a real associated somatotropic deficit.CASE: A 14-years-old male patient, followed for a celiac disease since the age of 6 years, under a stri...

Introduction: Androgen insensitivity syndrome (AIS) is a genetic sexual developmental disorder (DSD) inherited in an X-linked recessive mode, responsible for 30 to 70% of cases of DSD 46, XY. Androgen insensitivity can be complete (CAIS), partial (PAIS) or mild depending on the degree of receptor sensitivity to androgen stimulationCase report: A 17-year-old female patient with a history of inguinal hernia operated in childhood who was admitted for explor...

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: Primary biliary cholangitis (PBC) is a rare chronic cholestatic liver disease, which is most likely of autoimmune origin. It is often associated with other autoimmune diseases, although it is rarely seen with Basedow.Observation: We report the case of a 38 years old patient, chronic smoker, who presents clinical and biological hyperthyroidism related to Basedow, treated with synthetic antithyroid drugs for years with poor compliance and not...

Introduction: The association of papillary carcinoma with medullary thyroid carcinoma may in rare cases be found in some members of families with multiple endocrine neoplasia type 2a (MEN 2a).Case Report: A 38-year-old patient with a family history of papillary thyroid carcinoma (PTC), operated for multinodular goiter classified Tirads 4 by total thyroidectomy, the anatomopathological examination concluded to a lobar medullary thyroid carcinoma (MTC) of ...

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...

Introduction: The discovery of thyroid cancer during surgery for another malignant disease of the upper aerodigestive tract is rare. We report the case of a man presenting squamous cell carcinoma (SCC) of the larynx associated with papillary thyroid carcinoma (PTC).Case presentation: A 68-year-old patient with history of cigarette smoking underwent total laryngectomy for laryngeal cancer associated with subglottic extension. Hemithyroidectomy on the lesi...