Pseudohermaphroditism
February 1 2016 by Ray Sahelian, M.D.

Definition: One that possesses the internal reproductive organs of one sex while exhibiting some of the external physical characteristics of the opposite sex.

 

Female Pseudohermaphroditism definition

Pseudohermaphroditism : a condition in which the gonads are of one sex but one or more contradictions exist in the morphologic criteria of sex; female pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal female with partial masculinization. Most female pseudohermaphrodites, whether XX or XY, who are assigned and reared as girls evolve a feminine core gender identity and primarily are heterosexual.

 

Male Pseudohermaphroditism is rare

Male pseudohermaphroditism is a form in which the affected individual is a genetic and gonadal male with incomplete masculinization. Male pseudohermaphrodites are genetic males (45,XY) who develop female configurations and identities. The gonads are testes, but the genital ducts and external genitalia are female. Secondary sex characteristics may never appear in some patients, while others may achieve a fully feminized physique.

 

5alpha-reductase deficiency in male pseudohermaphroditism

The description of 5alpha-reductase deficiency in male pseudohermaphroditism, characterization of type-1 and type-2 isoenzymes of 5alpha-reductase, and development of 4-aza steroid competitive inhibitors of 5alpha-reductase were milestones in the development of 5alpha-reductase inhibitors, a class of drugs approved for the treatment of symptomatic benign prostatic hyperplasia (BPH).

 

Int J Endocrinology. 2013. Anti-Müllerian Hormone and Its Clinical Use in Pediatrics with Special Emphasis on Disorders of Sex Development. Using measurements of circulating anti-Müllerian hormone (AMH) in diagnosing and managing reproductive disorders in pediatric patients requires thorough knowledge on normative values according to age and gender. We provide age- and sex-specific reference ranges for the Immunotech assay and conversion factors for the DSL and Generation II assays. With this tool in hand, the pediatrician can use serum concentrations of AMH when determining the presence of testicular tissue in patients with bilaterally absent testes or more severe Disorders of Sex Development (DSD). Furthermore, AMH can be used as a marker of premature ovarian insufficiency (POI) in both Turner Syndrome patients and in girls with cancer after treatment with alkylating gonadotoxic agents. Lastly, its usefulness has been proposed in the diagnosis of polycystic ovarian syndrome (PCOS) and ovarian granulosa cell tumors and in the evaluation of patients with hypogonadotropic hypogonadism.

 

Endocrinol Metab Clin North Am. 2015. Fertility Issues in Disorders of Sex Development. Fertility potential should be considered by the multidisciplinary team when addressing gender assignment, surgical management, and patient and family counselling of individuals with disorders of sex development. In 46,XY individuals, defects of gonadal differentiation or androgen or anti-Müllerian hormone synthesis or action result in incomplete or absent masculinization. In severe forms, raised as females, motherhood is possible with oocyte donation if Müllerian ducts have developed. In milder forms, raised as males, azoospermia or oligospermia are frequently found, however paternity has been reported. Most 46,XX patients with normal ovarian organogenesis are raised as females, and fertility might be possible after treatment.