Endocrine Abstracts

Introduction: Primary and nonsuppressible hypersecretion of aldosterone is an increasingly recognized, but still underdiagnosed, cause of hypertension. Our objective is to determine the evolution features of primary aldosteronism (PA) patients.Patients and Methods: Retrospective study of 17 patients with PA confirmed biochemically and histologically when operated.Results: The mean age was 41.9 ± 9.3 years at PA diagnosis, and ...

IntroductionAcid sphingomyelinase-deficient Niemann–Pick disease (NPD) is a lysosomal lipid storage disorder. We report a new case of Hashimoto thyroiditis associated to primary adrenal insufficiency (PAI) likely of infiltrative process occurring in NPD type B patient.ObservationA 24-year-old Tunisian female patient was followed up in our endocrinology department for Hashimoto thyroiditis. Two years late...

IntroductionKlinfelter syndrome (SK) is the most common sex chromosome disorder. Affected males carry an additional × chromosome, which results in male hypogonadism, obesity and an insulin resistance field explaining the frequent association of KS and type 2 diabetes. However, cases of type 1 diabetes (T1D) in KS are rarely reported in the literature. We report a case.ObservationThis is a 31-year-old pat...

IntroductionTurner syndrome (TS) is among the most common chromosomal abnormalities in females, resulting from structural or numeric abnormalities in the X chromosome. Autoimmune disorders, especially thyroid diseases have a high prevalence among these patients. Usually Hashimoto’s thyroiditis (HT) is the most frequent one, whilst the association between this syndrome and Graves’ disease (GD) has been less often reported. Here we report a case ...

IntroductionAcromegaly is a rare disease, but serious in its complications. It is a multisystemic pathology also affecting the thyroid. The aim of our work is to study thyroid involvement in acromegaly.Patients and methodsThis is a retrospective study of acromegalic patients, in the endocrinology department of Sousse over a period of 20 years.ResultThese are 40 ac...

IntroductionWerner syndrome (WS) is a rare genetic disorder that displays clinical features suggestive of accelerated aging. Also known as adult progeria, it is caused by mutations in the WRN gene, which encodes a RecQ DNA helicase. Primary characteristics of this syndrome are progeroid changes of hair, bilateral cataract, atrophic skin, soft-tissue calcification, bird-like face, abnormal voice and many others features. Here we report 5 patients...

Introduction: Pheochromocytoma in pregnancy is rare with an incidence of 0.007%. A timely diagnosis is essential since fetal and maternal mortality depends on the early treatment. Our object is to report a pheochromocytoma diagnosed in a patient at the beginning of the pregnancy and to highlight the particularity in the therapeutic care.Case presentation: A 32-year-old female patient was admitted to our endocrinology department for exploration of palpita...

Introduction: Pheochromocytoma is a rare neuroendocrine tumor with a prevalence ranging from 0.05% to 0.1%. Those tumors are usually diagnosed in young adults. However, they can also affect children and the elderly, with sporadic cases being more common in older patients. Giving the recent increases in life expectancy and improvements in imaging techniques, there has been an increase in the number of pheochromocytoma in the elderly.Case presentation: An ...

Introduction: Hypertension disorders during pregnancy constitute a significant cause of maternal and perinatal mortality worldwide. Paragangliomas represent a rare cause of hypertension in gestation. The management of these endocrine tumors can be challenging, especially when diagnosed during pregnancy. We describe a case of a paraganglioma discovered in a pregnant woman.Case report: We report the case of a twenty-seven-year-old female patient who presen...

Introduction: Disorders of sex development represent a rare group of congenital disorders causing discord between the phenotypical and genotypical sex. We present the case of two female patients in whom we discovered a sex development disorder when they consulted for amenorrhea.Case report: Two sisters of 21 and 25 years old had an endocrinological consult for primary amenorrhea. They were conceived from a consanguineous marriage and had no particular me...