Long-term outcomes in non-CAH 46,XX DSD

Area of Science:

• Endocrinology and Genetics
• Reproductive Medicine
• Congenital Disorders

Background:

• Disorders of Sex Development (DSD) encompass rare congenital conditions.
• Non-congenital adrenal hyperplasia (CAH) 46,XX DSD are a small subset, with limited data due to rarity.
• Existing literature primarily consists of case reports, hindering understanding of long-term effects.

Purpose of the Study:

• To review current data on the long-term follow-up of patients with non-CAH 46,XX DSD.
• To cover key areas including quality of life, gender identity, fertility, sexuality, global health, and specific health effects.
• To highlight the need for further research due to data scarcity.

Main Methods:

• Literature review of existing case reports and series on non-CAH 46,XX DSD.
• Synthesis of available data concerning long-term patient outcomes.
• Identification of knowledge gaps in the understanding of these rare conditions.

Main Results:

• Limited data exist on adult quality of life and accurate prevalence of gender dysphoria.
• Fertility appears impaired across etiologies, while sexuality is preserved in 46,XX men but impaired in MRKH syndrome pre-treatment.
• Non-CAH 46,XX DSD may be less severely affected in general health, bone, and cardiometabolic aspects compared to other DSDs, though data are scarce.

Conclusions:

• Non-CAH 46,XX DSD patients face challenges with fertility and potential gender identity questions.
• While overall health impact might be less severe than other DSDs, data remain limited.
• Structured, multi-center follow-up studies are crucial for a comprehensive understanding of long-term outcomes.