Endocrine Abstracts

Introduction: Steroid 11β-hydroxylase deficiency (11-OHD) is the second most common causeof congenital adrenal hyperplasia (CAH),characterized by the overproduction of adrenal androgens and deoxycorticosterone (DOC).It usually presents with virilization of the female fetus, precocious puberty in male infants and hypertension with or without hypokalemia in both genders. Because of high levels of mineralocorticoids, patients rarely present with salt wasting (SW). We herein ...

Introduction: CD8+ T-cell deficiency is a feature of many chronic autoimmune diseases. Its association with vitamin D deficiency was described and it has been suggested that vitamin d deficiency contribute to the increase of the incidence and the progression of autoimmune diseases.Herein we report a case of hypopituitarism and vitamin D deficiency in a patient with CD8+ T-cell deficiency.Observation: A 28-year-old woman was...

Introduction: Congenital hypopituitarism is a rare disease induced by mutations in transcription factors involved in the pituitary development or ubiquitous transcription factors. It can be associated with a malformative syndrome. We herein describe clinical and hormonal features of congenital hypopituitarism in two Tunisian families.Observation 1: We report the case of three sisters, born at term to healthy consanguineous parents. The index case was ref...