Genetically controlled sex determination

1. Chromosomal sex determination:
The chromosomal theory states that the sex of male and female is determined by different types of chromosome constitution. There are two different types of chromosomes present in each individual such as (i) autosomes and (ii) allosomes or sex-chromosomes. Autosomes do not differ in number and morphology between males and females. However, allosomes differ in number and morphology that determines the sex.

In both males and females, 22 pairs of chromosomes are the same out of 23 pairs.

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The presence of the X or Y chromosome in the 23rd pair determines the sex of an individual.

In the spermatogenesis process, two different types of male gametes are produced such as 50% with the X chromosome and the rest 50% with the Y chromosome.

However, female produces only one type of ovum which carries the X chromosome.

During fertilization, sperm carrying either X or Y chromosome has an equal probability to fuse with the ovum.

If the Y carrying sperm fuses the ovum, then the zygote develops into a male. Whereas, X carrying sperm fuses the ovum results in the development of zygote as a female.

2. Genetically controlled sex determination
The presence of the Y chromosome determines sex in placental mammals.

The SRY gene encoding the sex-determining region of the Y protein is also known as the testis-determining factor which is located on the short branch of the Y chromosome.

However, multiple genes are required to develop testes in humans.

About seven weeks of embryo development, the SRY gene encodes a unique transcription factor called Sry protein or Testis Determining Factor (TDF) protein.

The TDF binds to the gene SRY- related HMG-box gene 9 (sox9) and the expression of sox9 protein leads to the induction of testis development.

The sox9 activates Fibroblast Growth Factor 9 (FGF9) that causes the differentiation of Sertoli cells from the gonadal somatic cells.

The Sertoli cell inhibits the development of the female reproductive tract by producing anti-Mullerian hormone (AMH) and subsequently induces other somatic cells to become Leydig cells.

The Leydig cells then secrete the male sex hormone, testosterone which stimulates and completes the development of testis.

In the absence of SRY protein in females, the gonad develops into ovary and some somatic cells are differentiated into follicle cells.

Theca cells are differentiated from some other somatic cells and secrete the female sex hormone estrogen.

The secretion of estrogen at a high level stimulates and completes the ovary development and contributes to the female secondary sexual characters.

The loss of function of the SRY gene results in a complete male to female sex reversal.

3. Hormonal sex determination:
Gonadal hormones organize the behavior and neural circuits during adolescence. The appearance of secondary sexual characters such as facial hair in male and breast development in the female is established due to the elevated levels of sex hormones such as testosterone and estrogen.

The fetus begins to produce hormones that cause its sex organs to grow after eight weeks of fertilization.

Male development occurs when the fetal testis begins to secrete hormones such as testosterone, dihydrotestosterone, and anti-mullerian hormone.

Testosterone controls the descending of testes from the abdomen into the scrotum as well as converts the mesonephric ducts into male accessory structures such as epididymis, seminal vesicles, and vas deferens.

The testosterone is converted into 5 alpha-dihydrotestosterone in the urogenital sinus and results in the formation of male urethra, penis, and prostate.

In the absence of testosterone and AMH, the paramesonephric ducts differentiate into the oviducts, uterus, cervix, and upper portion of the vagina.

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