hrp0082p3-d2-970 | Sex Development (1) | ESPE2014

A Familial Case of Complete Androgen Insensitivity Syndrome

Maines Evelina , Piona Claudia , Morandi Grazia , Baldinotti Fulvia , Antoniazzi Franco , Gaudino Rossella

Background: Complete androgen insensitivity syndrome (CAIS) is a condition that results in the complete inability of the cell to respond to androgens and falls within the category of 46,XY disorder of sex development (DSD). CAIS is characterized by female external genitalia in a 46,XY karyotype individual with normal testis development but undescended testes and unresponsiveness to age-appropriate level of androgens. The typical presentation is primary amenorrhea in an adolesc...

hrp0092p3-232 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

NR5A1 Gene Mutation: Variable Phenotypes, New Variants, Different Outcomes

Faienza Maria Felicia , Gabriela Wasniewska Malgorzata , Chiarito Mariangela , Corica Domenico , Carilo Maria Adelaide , Baldinotti Fulvia , Bertelloni Silvano

Introduction: NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in 46,XY disorders of sex development (DSD). The clinical, endocrine and genetic features of three 46,XY children from two unrelated families (A and B) with NR5A1 genetic variants are reported.P...

hrp0095p2-272 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

Berveglieri Vittoria , Folgheraiter Valentina , Di Paola Rossana , Bertelloni Silvano , Baldinotti Fulvia , Dal Ben Sarah , Cavarzare Paolo , Antoniazzi Franco , Gaudino Rossella

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

hrp0084p3-780 | DSD | ESPE2015

Clinical Findings, Endocrine Profile and Genetic Features of 5α-Reductase-2 Deficiency

Russo Gianni , Baldinotti Fulvia , Ghirri Paolo , Meroni Silvia , Colombo Ilaria , Moscuzza Francesca , Baroncelli Giampiero I , Sessa Maria R , Dati Eleonora , Bertelloni Silvano

Background: The 5α-reductase-2 (5R2) deficiency is a rare 46, XY disorder of sex differentiation caused by mutations in the 5R2 gene. Diagnostic and clinical management is not well definite.Aims and objectives: To describe relevant features of 5R2 deficiency in a large sample.Methods: Retrospective records of persons with 5R2 deficiency were reviewed and clinical, endocrinological, genetic data analysed....