IMPE Abstracts

Introduction: The 46, XY complete gonadal dysgenesis (CGD) is characterized by the presence of a female phenotype and completely undeveloped gonads (streak). This entity is considered as high-risk condition for the development of gonadal germ cell cancer.Aim: to characterize the genetic etiology in a patient with 46, XY DSD and CGD.Case report: A 12-year-old girl was admitted by a ...

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...

Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals.Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed ...

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...

Introduction: SOFT syndrome (MIM#614813), denoting Short stature, Onychodysplasia, Facial dysmorphism, and hypoTrichosis, is a rare primordial dwarfism syndrome encompassing severe growth failure of prenatal onset, craniofacial dysmorphism, sparse hair, and digital abnormalities associated with biallelic pathogenic POC1Agene variants. Phenotypic spectrum has recently been expanded to include insulin resistance (IR) and muscle cramps.<p class="abst...