IMPE Abstracts

Background and Aim: The SF-1/NR5A1 variant c.437G>C/p.Gly146Ala is common among individuals with disorders/differences of sex development (DSD). It has been considered a polymorphism due to its high allele frequency in the control population (23.5%, gnomAD) and its lack of negative effect in cell-based studies. However, its possible role as a disease modifier is still unclear given that oligogenic inheritance has been described in patients with SF1...

Introduction: Differences of sexual development (DSD) define congenital diseases in which there is an atypical development of chromosomal, gonadal or anatomical sex, and may present varying degrees to genital atypia. There has been a discussion about the ideal time for surgical approach of atypical genitalia. Some non-governmental entities argue that the surgical approach should be delayed until adulthood after the patient's consent. Objective/methodology...

Introduction: Cytochrome P450 oxidoreductase (POR) acts as a redox partner of all microsomal cytochrome P450s which metabolize drugs and steroid hormones. Mutations in POR cause congenital adrenal hyperplasia (CAH) and/or disorders of sexual development (DSD) due to defective biosynthesis of steroid hormones in the adrenal and gonads, and affect the hepatic metabolism of drugs. The variant V631I was previously identified only in healthy heterozygous carriers. ...

Introduction: Treatment in transgender girls can consist of puberty suppression with GnRH analogues (GnRHa) followed by estrogen treatment. A decrease in bone mineral density (BMD) Z-scores is a known effect of GnRHa. After initiation of estradiol, BMD Z-scores remain relatively low, even after several years of treatment. It has been hypothesized that the estradiol dosage may be insufficient, explaining the persistently low Z-scores. Some trans girls are treat...