Endocrine Abstracts

Introduction: Schmidt’s syndrome also known as autoimmune polyglandular syndrome type 2 (APS type 2) is a rare endocrine disorder defined by the combined occurrence of Addison disease with autoimmune thyroid disease. The rarity of the condition and the atypical presentation of adrenal insufficiency and hypothyroidism often lead to misdiagnosis with life-threatening consequences for the patient. In this study we report an exhaustive monocentric analysis of 22 patients diag...

Introduction: The insulin tolerance test (ITT) is accepted as the gold-standard test in the evaluation of adrenal and GH axis in patients with pituitary disorders. Diagnostic criteria that requires a minimum increment in serum cortisol is considered invalid although individuals who have a lower basal serum cortisol concentration because of recent ACTH deficiency may be maximally stimulated by ITT and thus able to further increase cortisol secretion without reaching the cut-off...

Context: GH deficiencies could be associated with other pituitary insufficiencies. Our main objective is to assess othe pituitary secretion in short stature patients.Patients and methods: Twenty three patients (17 boys, 6 girls) were included in the study for exploration of short stature, after oral and informed consent of their parents, from January 2016 to June 2017 in the Department of Endocrinology of the University Hospital of Farhat Hached Sousse. ...

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...

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...