Searchable abstracts of presentations at key conferences in endocrinology

ea0095p124 | Gonadal, DSD and Reproduction 2 | BSPED2023

The value of the stimulated testosterone: dihydrotestosterone ratio in 46, XY DSD due to 5alpha-reductase type 2 deficiency

Balagamage Chamila , Igbokwe Rebecca , Idkowiak Jan , Mohamed Zainaba

Introduction: Testosterone(T) is converted to dihydrotestosterone(DHT), the most potent androgen, by the enzyme 5alpha-reductase type 2(SRD5A2). During foetal development, the masculinisation of male external genitalia crucially depends on DHT. Pathogenic variants in SRD5A2 cause 46,XY differences in sex differentiation(DSD). Early and accurate diagnosis is paramount to facilitate gender assignment since most reared as females may profoundly virilize at pubert...

ea0095p126 | Gonadal, DSD and Reproduction 2 | BSPED2023

A case of 46, XY differences of sex development (DSD) due to FKBP4 deficiency: A novel candidate of androgen insensitivity syndrome?

Balagamage Chamila , Igbokwe Rebecca , Robinson Hannah , McCarthy Liam , Chandran Harish , Godber Caroline , Mohamed Zainaba , Idkowiak Jan

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...