Endocrine Abstracts

Introduction: Darier disease, also known as dyskeratosis follicularis, is a rare autosomal dominant genodermatosis characterized by a persistent eruption of keratotic papules. It is caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca 2+ -ATPase isoform 2 in the endoplasmic reticulum. Since it is expressed in most tissues, other organs besides the skin may be involved in Darier disease. In this case, we report a patient treated for Darier disease who w...

Introduction: Rathke cleft cysts (RCC) are benign cystic lesions of the sellar and suprasellar region, which is believed to arise from the remnants of the Rathke pouch. Symptomatic RCC are rare. Endocrine symptoms are usually caused by compression of the surrounding pituitarygland. It can therefore cause hypopituitarism, but it is rarely associated with primary endocrine dysfunctions. In this case, we report a co-occurrence of premature ovarian insufficiency and RCC.<p cla...

Introduction: Pituitary stalk interruption syndrome is a rare disorder characterized by a specific tirade: an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. This syndrome has been described in association with other somatic abnormalities and recently a polygenic etiology has been suggested. Herein, we report a case of type 1 diabetic patient, explored for short stature, revealing a pituitary stalk interrup...

Introduction: Growth hormone deficiency (GHD) is a rare cause of delay of growth. However, it is primordial to screen for it since its presence leads to a specific treatment which improves statural prognosis. GHD should be confirmed through stimulation tests such as Insulin Tolerance test (ITT) or Clonidine Stimulation Test (CST). The objective of our study was to compare these two diagnostic tools.Methods: We conducted a retrospective study in the endoc...