Intersex - True Picture
Intersex is a group of individuals in whom there exists a discrepancy between the external genitalia and internal gonads (testes and ovary). The UN Office of the High Commissioner for Human Rights define them as - "do not fit the typical definitions for male or female bodies".
Inter-sex and Sports - Honour and ShameAll hell broke loose for Semenya, the South African athlete who won the 800 m event but was publically shamed in 2009 because here femininity was not convincing enough. Laboratory tests revealed that she was more a ‘male’ than a female and her clinical tests proved that she had internal testes and that the uterus was non-existent. She was also being accused of having benefited from her ‘maleness’. Her sexual possibilities were publicly discussed and she was subjected to severe mental agony.
Another case is that of Shanthi Soundararajan, a talented athlete from Tamil Nadu, India. Till 2006, everything was going well for her and the world seemed at her feet after she won an international event. But then again for her all hell broke loose, when it was revealed that she genotypically differed from the typical female and that there was more maleness in her than the rest of the species.
Both the talented athletes, Semenya and Shanthi, are inter-sex individuals.
Anatomy of Reproductive SystemIn human beings, the process of sexual reproduction involves the sperm impregnating the egg and the fusion of the two specialized cells called germ cells cell results in a single cell called zygote. The zygote multiplies rapidly to eventually give shape to the foetus. Errors in the fusion or development of the foetus can result in some of the sexual anomalies that lead to intersex.
The male reproductive system of a man consists of a pair of testes, ducts, accessory glands and a penis. The functions of the male reproductive system are:
1. Production of sperms.
2. Transmission of sperms to the female.
The female reproductive system consists of two ovaries (produce ova and female hormones), Fallopian tubes, uterus (muscular organ which supports the fetus during it’s 40 week gestation period before birth), vagina and external genitalia.
1. Production of ovum eggs.
2. Receiving the sperms.
3. Providing suitable environment for fusion (fertilization) of the egg and the sperm.
4. Child birth.
5. Nourishment of the baby with breast milk until it can take a mixed diet.
Intersex Types – Not Quite a Boy or a GirlIntersex can be classified into four categories the details of which are discussed below.
a) 46 XX Intersex.
A person with this condition has the genotype of a female 46, XX. External genitalia will appear like that of a male. The labia of the female external genitalia gets fused and the clitoris is enlarged to look like a penis giving the appearance of male genitalia.
It must be noted that the person usually has a normal uterus, ovaries and fallopian tubes. Some of the causes include:
Overexposure of a female fetus to excess male hormones while still in the mother’s womb. This may even be due to tumors producing male hormones in the mother.
Aromatase deficiency- Aromatase is an enzyme that normally converts male hormones to female hormones. Excessive aromatase activity leads to the overproduction of female hormone estrogen while its deficiency can result in 46, XX intersex, where enough estrogen is not produced. This is not noticeable until puberty when these XX girls begin to display male characteristics.
The 46, XY person has the genotype of a male but the external genitalia may resemble that of a female or it may be ambiguous or incompletely formed. Testes when present may be normal or malformed. In some cases it may be absent. The condition used to be called ‘male pseudohermaphroditism’. It is also referred to 46, XY with undervirilization and it occurs due to the following possible causes:
- Testosterone formation is a multi-step process that requires the functioning of different enzymes. Dysfunction of these enzymes can result in its inadequate production and results in the formation of 46, XY intersex.
- In some cases of 46, XY intersex, normal internal testes may be present that ensures adequate testosterone production. However deficiency in the enzyme 5-alpha-reductase impairs the conversion of testosterone to dihydrotestosterone a step necessary for proper maleness to manifest.
- Malformation syndromes such as Smith Lemli –Opitz and Campomelic dysplasia also have 46 XY karyotype with female or ambiguous genitalia. These occur due to mutations in the autosomal genes DHCR7 (which codes for 7-dehydrocholesterol reductase) or it could be due to deletions in the autosomal gene SOX-9
- In some cases of 46XY there is a loss of SRY genes located on the Y chromosomes. These SRY genes are responsible for the development of the male attributes.
- Sometimes, in a 46 XY individual, a duplication of the dosage sensitive region (DSS) on the short arm of the X (Xp) results in female external genitalia.
- Mutation in the gene DAX 1 is also associated with XY females
- Swyer syndrome is a type of hypogonadism. Here the functional gonads,the ovaries, are absent but the person resembles a normal female and has a karyotype 46, XY.
c) True Gonadal Intersex.
A person is said to be true gonadal intersex when both testicular and ovarian tissues are present. These tissues may be found separately or they may be present as a single ovo-testis. The genotype may denote 46 XX, 46 XY or both. The external genitalia may appear to be male or female or it may be ambiguous. The underlying cause of this condition, once referred to as “true hermaphroditism”, is yet unknown.
These intersex disorders are characterized by the impaired sexual development and involves conditions such as Turners syndrome (45,XO), Klinefelter syndrome (47,XXY) and super females (47,XXX). These individuals are not classically intersex but display deficiencies in their overall sexual development.
Latest Publications and Research on XY Females - Women or MenTargeted metabolomic approach in men with carotid plaque. - Published by PubMed
Arab female and male perceptions of factors facilitating and inhibiting their physical activity: Findings from a qualitative study in the Middle East. - Published by PubMed
Real vs. virtual position of single implants installed in pre-maxilla via guided surgery: A proof of concept analyzing positional deviations. - Published by PubMed
Second cancers in Hodgkin's lymphoma long-term survivals: A 60-year single institutional experience with real-life cohort of 871 patients. - Published by PubMed
Measures of physical performance and muscle strength as predictors of fracture risk independent of FRAX, falls and BMD: A meta-analysis of the Osteoporotic Fractures in Men (MrOS) Study. - Published by PubMed