Endocrine Abstracts

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: Congenital adrenal hyperplasia encompasses a spectrum of autosomal recessive disorders marked by enzymatic deficiencies in cortisol biosynthesis. The prevailing etiology predominantly involves a deficit in 21-hydroxylase. This pathophysiological state gives rise to a myriad of complications, with acute adrenal insufficiency standing out as the most critical. Nevertheless, it is noteworthy that less-explored are the intricacies of additional complications, particu...

Background: Diabetic foot represents a serious complication due to its prevalenceas well as its impact on functional and vital prognosis of the diabetic patient. The aim of our study was to assess the risk of foot ulceration in a group of long-standing type 1 diabetics.Methods: We conducted a descriptive observational cross-sectional study including type 1 diabetic patients who had diabetes for more than 20 years, followed at the National Institute of Nu...

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: Niemann Pick disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in acid sphingomyelinase. Usually discovered in childhood, it can affect liver, spleen and pulmonary function. Here, we report the case of a Niemann Pick type B disease in an adult associated with bilateral adrenal incidentalomas.Observation: A 45-year-old male patient was found to have bilateral adrenal incidentalomas associated with hepato...

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...