Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2015) 37 EP173 | DOI: 10.1530/endoabs.37.EP173

Centro Hospitalar do Porto, Porto, Portugal.


Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development characterized by the persistence of Mullerian duct derivatives in a genotypic (46,XY) and phenotypic normally virilised male. PMDS is transmitted in an autosomal recessive manner, caused by mutations in the anti-Mullerian hormone gene or in the gene encoding the AMH receptor. The authors report a case of a male patient aged 62 years, with bipolar disorder, referred to the endocrinologist by incidental discovery of uterus and fallopian tubes during emergency laparotomy for acute peritonitis associated with Crohn’s disease diagnosed later. In the anamnesis: childbirth at home in a village, appropriate pubertal development, no history of gynecomastia; no erectile dysfunction or changes in libido; had no children although there was that intention. At the physical exam: male phenotype with normal penis but missing testicles in the scrotum; not eunuchoid proportions; no gynecomastia; hairy distribution with male pattern and male voice. MRI showed ‘uterus in middle location with normal anatomical pattern, inserted in the region of the seminal vesicles; prostate and seminal vesicles with normal characteristics; gonads in ovarian topography with uncharacteristic signal behavior for ovarian tissue, suggesting ovotestes’. Hormonal study revealed hypergonadotrophic hypogonadism and no other abnormalities; Normal karyotype 46,XY. Normal bone densitometry. Histology of the right gonad (the patient refused removal of both gonads) showed atrophic testicular tissue with scattered microcalcifications, without signs of malignancy. The authors decided to present this case not only because of its rarity, but also to draw attention to the late diagnosis that was performed despite the presence of cryptorchidism. Early diagnosis and treatment of PMDS can reduce the risk of degeneration and testicular malignancy associated with prolonged cryptorchidism. Surgical replacement of the gonads in the scrotum does not ensure fertility if there is an abnormal connection between the testicles and the excretory ducts.

Article tools

My recent searches

No recent searches.

My recently viewed abstracts