A baby’s sex is determined at conception by the combination of X and Y chromosomes passed on from the mother’s egg and the father’s sperm. Males have a set of XY sex chromosomes and females have a set of XX sex chromosomes. During pregnancy, a woman’s bloodstream contains not only her own DNA, but also trace amounts of DNA from her unborn child. Non-invasive prenatal DNA testing can determine as early as 6 weeks whether a baby is male or female before being able to detect anatomical differences by ultrasound. If male chromosomes are detected, the baby is a boy; if none are found, the baby is a girl.1
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Male vs. Female Development
Initially, the gonads in both male and female embryos can develop as either testes or ovaries. Starting at 9 weeks, an embryo with a Y-chromosome produces a factor known as SRY that simultaneously causes the gonads to begin maturing as testes and prevents them from maturing as ovaries. The testes, in turn, produce three important hormones: testosterone, dihydrotestosterone and AMH. In males, the testes start producing and releasing testosterone by 10 weeks. Testosterone allows the primitive male anatomy to mature, while AMH causes the primitive female structures to shrivel. The male internal ducts consist of a pair of tubes called the mesonephric ducts that will mature into the vas deferens and epididymis. The epididymis stores sperm, and the vas deferens is the sperm duct.2
In females, the lack of AMH causes the gonads to develop into ovaries. The female structures also consist of a pair of tubes called the paramesonephric ducts. Parts of the paramesonephric ducts will later fuse at the midline to form the uterus, cervix and upper portions of the vagina, while the unfused sections become the fallopian tubes. In the absence of testosterone and AMH, the primitive female anatomy matures, and the male structures that require testosterone to survive start to shrivel. Therefore, the presence of the Y chromosome in males and absence in females, is the fundamental mechanism establishing human sex and reproductive development.3
Externally, both male and female embryos have indistinguishable genitalia for the first eleven weeks gestation. Both sexes develop folds of tissue adjacent to the external openings that lead to the bladder and the intestines. Both sexes also have a small protrusion of tissue known as the genital tubercle.4 Because of this, early ultrasounds cannot typically determine whether the baby is a boy or a girl. By 11 to 14 weeks, ultrasound can often identify the baby’s sex, with accuracy improving from about 75% to almost 100% by week 14.5 6
Around 11 weeks gestation, the external structures start to differentiate. In males, the genital tubercle elongates and becomes the penis. The external folds fuse at the midline and become the scrotum. By 14 weeks, the male genitalia are mostly formed.7 In females, the genital tubercle elongates only slightly, forming the clitoris, and the surrounding folds become the labia. Female external genitalia form between 13 and 22 weeks.8
| Gestational Age | Event | Description |
|---|---|---|
| Fertilization, Week 2 | Sex determination | The sex of the baby is set at conception: XX for female, XY for male.9 |
| Week 6 | Bipotential Gonad Formation | Both males and females begin with identical gonads, and two sets of ducts: Wolffian (male) and Müllerian (female).10 |
| Week 7 | Primordial Germ Cells Migrate | Primordial germ cells, which will become the future eggs and sperm, move from the yolk sac to the developing gonads.11 |
| Week 9 | Gonads start differentiating | In XY embryos, the SRY gene on the Y chromosome causes gonads to become testes. In XX embryos (no SRY), gonads eventually develop into ovaries. In males, testes develop by 9 weeks and in females ovaries develop by 14 weeks.12 |
| Weeks 9-14 | Male and female-specific pathways |
|
| Weeks 11-14 | External genitalia begin forming |
|
| Week 14 | External genitalia distinguishable | A baby’s sex is visible by ultrasound.15 |
| Week 16 | Penis formation complete (males) | The penis has formed.16 |
| Weeks 22-24 | Completion of genital formation | Male and female internal and external genitalia have developed, though they remain immature until puberty.17 |
| Weeks 30–35 | Testicular Descent (Males) | Testes descend through the inguinal canal into the scrotum.18 |