Male or Female? : The Curse of Gender Syndromes

The common phrases, “Looks aren’t everything” or “Physical appearances can be deceiving,” offered by elders to younger generations in times of heartbreak and disappoint or simply to heed warning could also be used in more literal situations, such as, gender syndromes. One syndrome discussed in our A&P textbook, “Anatomy and Physiology: The Unity of Form and Function,” was Androgen-Insensitivity Syndrome that causes a genetic male to have the external genitalia and secondary sex characteristics of a female; however, the internal genitalia are characteristic of a male.

Another gender/genetic syndrome that can occur in males is Klinefelter Syndrome, which occurs when a male inherits one or more extra X chromosomes. An XXY male is conceived as a result of a breakdown in meiosis of the sex cell in the mother or father. Normally, the 46 chromosomes in a cell of the parent divide into two cells each containing 23 chromosomes. The synthesis of an egg with two X chromosomes or a sperm containing an X and Y chromosome occurs mid-meiosis during the exchange of genetic material between paired chromosomes; the two X’s of a female and the X and Y of the male fail to pair and exchange genetic material. An extra X chromosome causes a testosterone deficiency due to unsuppressed follicle-stimulating and luteinizing hormones. Klinefelter syndrome is the most common chromosomal disorder, affecting 1 in every 500 men. Klinefelters is undetectable in males in the first few years of life unless the mothers undergo prenatal testing, such as, amniocentesis or chorionic villus. The first signs of an individual with Klinefelter's occurs in early development, pre-puberty, in the form of immature speech and language skills, sensitivity to sounds, touch, and movement, and delayed gross and fine motor functions. During puberty the phenotypic traits of males with Klinefelter syndrome become more evident; pubescent males experience excessive breast development, lack of facial and auxiliary hair growth, small testicles and penis, longer legs and arms, broader hips, and low energy levels.
If not detected before birth, most individuals discover they have Klinefelters Syndrome as adults from infertility test results. Due to the extremely low levels of testosterone, all Klinefelter's males are infertile; however, recent advancements in male infertility treatment have shown that males can undergo testicular sperm extraction combined with in vitro fertilization to conceive a child.

Males with Klinefelter Syndrome have an increased risk at developing autoimmune disorders, most commonly, type I diabetes, thyroiditis, and lupus erythematosus. Also, their enlarged breasts put them at the same risk level for breast cancer as women. Similarly, they experience the effects of menopause just as women, such as, decreased bone-calcium density and decreased libido. Individuals can decrease their risk of certain health problems through testosterone replacement therapy. Beginning routine testosterone injections at the onset of puberty has proven to increase bone and muscle strength and promote growth of facial and body hair. As a result, an individual’s mood and self-confidence will increase, which will decrease their chance of developing depression providing a greater quality of life.

http://my.clevelandclinic.org/disorders/klinefelter_syndrome/hic_understanding_klinefelter_syndrome_a_guide_for_xxy_males_and_their_families.aspx

http://www.milwaukeebd.com/images/milwaukeebdcom/bizcategories/1535/BrochureAndPhotos/98/Klinefelter_Brochure_.pdf

http://www.mayoclinic.com/health/klinefelter-syndrome/DS01057/DSECTION=complications

http://my.clevelandclinic.org/PublishingImages/HIC/klinefelter%20xy%20nih.gif

http://www.aafp.org/afp/2005/1201/p2259.html