TLDR A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
A 36-year-old phenotypic female patient with a 46,XY karyotype was diagnosed with 5-alpha-reductase deficiency (5ARD) after presenting with type 2 diabetes, weight gain, and acne. Despite having a female phenotype, the patient had elevated testosterone levels and an absent uterus, cervix, and ovaries. Genetic testing confirmed a pathogenic variant of the SRD5A2 gene. This case is atypical due to the late presentation, likely influenced by the patient's lack of sexual activity and conservative upbringing. The case underscores the importance of considering rare sexual development disorders in patients with symptoms like obesity, hirsutism, infertility, and amenorrhea.
38 citations,
October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” 5-alpha reductase deficiency leads to male sexual development issues and treatments like finasteride help with prostate enlargement and hair loss.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
5 citations,
January 2017 in “Endocrinology” Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
54 citations,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
November 2016 in “Elsevier eBooks” Genetic mutations can affect female sexual development, requiring personalized medical care.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
