Answer to Question #288054 in Cell Biology for pelin

Question

Testosterone in humans shapes the formation of the external genitalia and influences brain development in the fetus; at puberty, the hormone triggers the development of male secondary sexual characteristics.

Assume that you are a genetic counsellor and you have a case who is genetically male but developed as a female. What could be the defect in this case? How would you explain the situation to the case?

Answer 1

Development of the Sexual Organs in the Embryo and Fetus

Females are considered the “fundamental” sex—that is, without much chemical prompting, all fertilized eggs would develop into females. To become a male, an individual must be exposed to the cascade of factors initiated by a single gene on the male Y chromosome. This is called the SRY (Sex-determining Region of the Y chromosome). Because females do not have a Y chromosome, they do not have the SRY gene. Without a functional SRY gene, an individual will be female.

In both male and female embryos, the same group of cells has the potential to develop into either the male or female gonads; this tissue is considered bipotential. The SRY gene actively recruits other genes that begin to develop the testes, and suppresses genes that are important in female development. As part of this SRY-prompted cascade, germ cells in the bipotential gonads differentiate into spermatogonia. Without SRY, different genes are expressed, oogonia form, and primordial follicles develop in the primitive ovary.

Soon after the formation of the testis, the Leydig cells begin to secrete testosterone. Testosterone can influence tissues that are bipotential to become male reproductive structures. For example, with exposure to testosterone, cells that could become either the glans penis or the glans clitoris form the glans penis. Without testosterone, these same cells differentiate into the clitoris.

Not all tissues in the reproductive tract are bipotential. The internal reproductive structures (for example the uterus, uterine tubes, and part of the vagina in females; and the epididymis, ductus deferens, and seminal vesicles in males) form from one of two rudimentary duct systems in the embryo. For proper reproductive function in the adult, one set of these ducts must develop properly, and the other must degrade. In males, secretions from sustentacular cells trigger a degradation of the female duct, called the Müllerian duct. At the same time, testosterone secretion stimulates growth of the male tract, the Wolffian duct. Without such sustentacular cell secretion, the Müllerian duct will develop; without testosterone, the Wolffian duct will degrade. Thus, the developing offspring will be female. For more information and a figure of differentiation of the gonads, seek additional content on fetal development.