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5α-reductase deficiency (5-ARD) – an autosomal recessive condition caused by a mutation of the 5-alpha reductase type 2 gene. It only affects people with Y chromosomes, namely genetic males. People with this condition are fertile, with the ability to father children, but may be raised as females due to ambiguous or feminized genitalia. [18] [19]
The human Y chromosome showing the SRY gene which codes for a protein regulating sexual differentiation. Sexual differentiation in humans is the process of development of sex differences in humans. It is defined as the development of phenotypic structures consequent to the action of hormones produced following gonadal determination. [1]
The aetiology of 46,XY gonadal dysgenesis can be caused by mutations in the genes involved in testis development such as SRY, SOX9, WT1, SF1, and DHH. [9] [13] If a single or combination of these genes are mutated or deleted, downstream signalling is disrupted, leading to atypical penis and scrotum. [14]
Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty.Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. [1]
Bisphenol A, a xenoestrogen found in hard plastics, has been shown to affect sexual development. [20] "Factors other than obesity, however, perhaps genetic and/or environmental ones, are needed to explain the higher prevalence of early puberty in black versus white girls."
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty.
In girls, puberty and periods normally start between the ages of 10 to 15, but experts say this has been getting earlier in recent decades. In girls, puberty and periods normally start between the ...
Females normally have two X chromosomes while males typically have an X and a Y chromosome. The X chromosome is more active and encodes more information than the Y chromosome, which has been shown to affect behavior. [14] Genetic researchers theorize that the X chromosome may contain a gene influencing social behaviours. [15] [better source needed]