Endocrine Abstracts

Klinefelter syndrome (KS) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The phenotype is variable ranging from ‘nearnormal’ to a significantly affected individual. Typically, diagnosis is delayed with the majority of patients identified during fertility workup in adulthood, and only 10% of patients diagnosed prior to puberty.Patients and methods: This is an 8-year retrospective study of the cli...

Introduction: Cushing’s syndrome denotes pathologic hypercortisolism as a result of excessive adrenocorticotropic hormone (ACTH) production or autonomous adrenal production of cortisol according to the ACTH levels. However, 30% of the patients with CS have ACTH levels in the ‘grey zone’ (5–20 pg/ml), thereby posing a challenge in establishing the aetiological diagnosis.Case presentation: A 20-year-old woman presented to our depart...

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...

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...

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...