Case 2: A premature infant with ambiguous genitalia

Development of the reproductive organs in an embryo starts from a bipotential state. This means the early embryo can develop either male or female reproductive organs. The formation of these organs begins with the growth of gonadal ridges that arise from the intermediate mesoderm during the fifth week of development.
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the male...

The vulva encompasses the external structures of the female reproductive system. At the forefront is the monpubis, a cushion of fatty tissue atop the pubic bone. Once puberty sets in, this area typically grows hair. Extending from just behind the mons pubis are the labia majora (labia = 'lips'; majora = 'larger'), which are larger skin fs olds coated with hair. Nestled within are the labia minora (labia = 'lips'; minora = 'smaller'), which are thinner, more pigmented, and hairless. While the...

The third stage of psychosexual development proposed by Freud is the phallic stage, occurring between the ages of 3 and 6. During this period, children become aware of their bodies and the differences between males and females. The erogenous zone in this stage is the genitals, and conflicts arise as children develop desires toward the opposite-sex parent. Boys experience the Oedipus complex, where they desire their mother and view their father as a rival. This leads to castration anxiety, the...

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...