46, XX male disorder of sexual development
A 47-year-old male was referred to endocrinology with a 9-year history of primary hypogonadism. Baseline testosterone was 4.3 nmol/L (RR 8-30) with an elevated follicle stimulating hormone (17.5 IU/L) and luteinizing hormone (15.2 mIU/ml). He had a short stature with bilateral small pre-pubertal testicles.
Karyotyping showed 46 XX, making a diagnosis of 46, XX male disorder of sexual development. Fluorescence in situ hybridization analysis identified the presence of a translocated sex-determining region Y gene.
Testosterone replacement therapy (testogel). Monitoring blood markers affected by testosterone therapy and metabolic risk factors.
Primary hypogonadism in males can be divided into congenital and acquired causes. 46, XX male disorder of sexual development is a rare congenital cause, with an incidence of approximately 1 in 20,000 newborn males. This case report highlights the value of karyotyping in the workup for primary hypogonadism.
CommentsThe original article is available at www.imj.ie
Published CitationFlannery C, Agha A. 46, XX male disorder of sexual development. Ir Med J. 2021;114(1):243
Publication DateJanuary 2021
- Beaumont Hospital
PublisherIrish Medical Association
- Published Version (Version of Record)