EXCEPTIONAL HUMAN SEXUAL DEVELOPMENT (No Penis since Birth)

THE CASE OF ANNE S.

Anne S., an attractive 26-year old female, sought treatment for two sex-related disorders: lack of menstruation and pain during sexual intercourse (Jones & Park, 1971). She sought help because she and her husband of 4 years had been trying without success without children and she correctly surmised that her lack of menstrual cycle was part of the problem. A physical examination revealed that Anne was healthy young woman. Her only readily apparent peculiarity was the sparseness and fineness of her pubic and axillary hair. Examination of the external genitals revealed no abnormalities; however, there were some problems with her internal genitals: her vagina was only 4 centimeters long and her uterus was also underdeveloped.
Anne’s doctor concluded that she was a MAN. No, this is not A MISTYPED; they concluded that Anne, the attractive young housewife, was in fact Anne, the happily married MAN.

Three lines of evidence supported this diagnosis. First, analysis of some cells scraped from the inside of Anne’s mouth revealed that they were of the normal male XY type. Second, tiny incision in Anne’s abdomen which enabled Anne’s physicians to look inside, revealed a pair of internalized testes, but no ovaries. Finally, hormone tests revealed that Anne’s hormone levels were those of a male.

Anne suffers from a disorder called the ANDROGENIC INSENSITIVITY SYNDROME: all of her symptoms stem from the fact that her body lacks androgen receptors. During development, Anne’s testes released normal amounts of androgen for a male, but her body could not respond to them in the absence of androgen receptors, and her development thus proceeded as if no androgens had been released. Her external genitals, her brain, and her behavior developed along preprogrammed female lines during fetal development without the effects of androgen to override the female program. Anne did not develop normal internal reproductive ducts because, like any other genetic males, her testes released Mullerian inhibiting substance. At puberty, Anne’s testes released enough estrogens to feminize the body in the absence of the counteracting effects of androgens; however, without androgen receptors, adrenal androstenedione could not stimulate the growth of pubic and axillary hair.

Money and Ehrhardt (1972) studied the psychosexual development of 10 androgen insensitive patients conducted that the placidity of their childhood play, their goals, their fantasies, their sexual behavior, and their maternal tendencies – several had adopted children- all “conformed to the idealized stereotype of what constitutes femininity in our culture.” However, it is not clear what part of this normal psychosexual development is attributable to their androgen insensitivity, and what is attributable to their experience of being raised as a female.

An interesting issue of medical ethics is raised by the androgenic insensitivity syndrome. Many people believe that physician should always disclose all the relevant findings to their parents. If you were Anne’s physicians would you tell her that she is a MAN? Would you tell her husband?

(I write this blog to find answers too to NANCY NAVALTA' case, the famous Philippine Athlete, who were being disqualified for joining national and international competition. Her physicians found something after battery of physical exam. But the results were not disclosed. After winning several competitions, some other countries’ athletes complained. She should compete on MEN’S division for track and field and not on WOMEN’S division. They insisted that she is a MAN. Her physical features are those of men, but on Nancy’s part, she is really a woman. She claimed that she was once fallen in love with a man. Hmmnn...)