ESPE Abstracts

Background: Congenital primary adrenal insufficiency (PAI) can occur as three types: isolated glucocorticoid or mineralocorticoid deficiency, or global adrenal insufficiency, with combined mineralo and glucocorticoid deficiency. Once the most frequent genes (CYP21A2, ABCD1…) have been discarded by biological tests, many other genes may be involved in each type, and one gene may be responsible of different types. Consequently, there is no real decision tree in th...

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

Introduction: Disorders of sexual development (DSD) encompass a complex group of conditions characterized by a discrepancy between phenotypic and chromosomal sex, sometimes associated with impaired sex steroid synthesis or hormone action. DSD can be detected prenatally; however, establishing their etiology remains challenging. Our objective is to identify steroid profiles that could guide prenatal molecular analyses for diagnosis and perinatal care.<p clas...

Introduction: Familial glucocorticoid deficiency (FGD), also known as hereditary resistance to ACTH, is a rare autosomal recessive disease characterized by an isolated deficiency of glucocorticoids. We report the case of a child who presented with type 1 FGD due to mutation of the ACTH receptor, melanocortin-2 receptor (MC2R), associated with monosomy 9p.Case presentation: A 1-day-old female patient was born to consangui...

Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of female virilisation at birth and carries heavy psychosocial consequences. Early antenatal treatment with dexamethasone is successful in avoiding severe virilisation, thus reducing the need for surgery and improving psychological outcome.Objectives: To evaluate the feasibility and effectiveness of antenatal treatment in 21-OHD in a resource-limit...