A lot of literature reviewing 46,XY disorders of sex development (DSD) is available; however, XX DSD has received less attention. The majority of 46,XX DSD cases are due to congenital adrenal hyperplasia but this research topic will focus on rarer forms of XX DSD caused by errors in sex-determination.
One of the main areas of focus is on rare SRY- positive and SRY-negative testicular (T-DSD) or ovo-testicular (OT-DSD). Loss of function variants in the genes involved in ovarian development (f.e. BPM15, FOXL2, FSHR, LHX8, MCM8, MCM9, NOBOX, NR5A1,) are associated with 46,XX T-/OT-DSD and/or accelerated loss of primordial follicles resulting in premature ovarian failure.
The aetiology of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) remains elusive; recent advances established a strong genetic component and in surgical advancements show promising options for fertility.
Aromatase enzyme (CYP19A1) converts androgens into estrogens in many tissues. Aromatase deficiency (AroD) causes atypical genitalia in 46,XX fetuses and maternal virilization during pregnancy due to an increased concentration of androgens. Ovaries are usually large and polycystic in girls with AroD.
46,XX DSD due to genes involved in gonadal and annexa development or steroidogenesis (AroD) are rare conditions whose pathogenetic mechanisms are not yet fully understood. The main goal of this special issue aims to collate the latest knowledge on genetics, endocrinology, surgery, psychology, updated technological developments in understanding 46,XX DSD, AroD and MRKHS and their impact on improved patient management.
The goal of the research presented is to update and share knowledge on diagnostic, genetic, pathogenetic, clinical, psycho-social and therapeutic aspects of 46,XX DSDs due to:
- XX Testicular DSD
- XX Ovo-testicular DSD
- Premature Ovarian Failure
- MRHK Syndrome.
- Aromatase deficiency
We invite investigators to contribute original research and review articles, or unpublished rare case reports that will be considered when they highlight very innovative data.
A lot of literature reviewing 46,XY disorders of sex development (DSD) is available; however, XX DSD has received less attention. The majority of 46,XX DSD cases are due to congenital adrenal hyperplasia but this research topic will focus on rarer forms of XX DSD caused by errors in sex-determination.
One of the main areas of focus is on rare SRY- positive and SRY-negative testicular (T-DSD) or ovo-testicular (OT-DSD). Loss of function variants in the genes involved in ovarian development (f.e. BPM15, FOXL2, FSHR, LHX8, MCM8, MCM9, NOBOX, NR5A1,) are associated with 46,XX T-/OT-DSD and/or accelerated loss of primordial follicles resulting in premature ovarian failure.
The aetiology of Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) remains elusive; recent advances established a strong genetic component and in surgical advancements show promising options for fertility.
Aromatase enzyme (CYP19A1) converts androgens into estrogens in many tissues. Aromatase deficiency (AroD) causes atypical genitalia in 46,XX fetuses and maternal virilization during pregnancy due to an increased concentration of androgens. Ovaries are usually large and polycystic in girls with AroD.
46,XX DSD due to genes involved in gonadal and annexa development or steroidogenesis (AroD) are rare conditions whose pathogenetic mechanisms are not yet fully understood. The main goal of this special issue aims to collate the latest knowledge on genetics, endocrinology, surgery, psychology, updated technological developments in understanding 46,XX DSD, AroD and MRKHS and their impact on improved patient management.
The goal of the research presented is to update and share knowledge on diagnostic, genetic, pathogenetic, clinical, psycho-social and therapeutic aspects of 46,XX DSDs due to:
- XX Testicular DSD
- XX Ovo-testicular DSD
- Premature Ovarian Failure
- MRHK Syndrome.
- Aromatase deficiency
We invite investigators to contribute original research and review articles, or unpublished rare case reports that will be considered when they highlight very innovative data.
