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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]
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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
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 ...
The X-chromosome carries a larger number of genes in comparison to the Y-chromosome. In humans, X-chromosome inactivation enables males and females to have an equal expression of the genes on the X-chromosome since females have two X-chromosomes while males have a single X and a Y chromosome. X-chromosome inactivation is random in the somatic ...
Sexual differentiation is the process of development of the sex differences between males and females from an undifferentiated zygote. [1] [2] Sex determination is often distinct from sex differentiation; sex determination is the designation for the development stage towards either male or female, while sex differentiation is the pathway towards the development of the phenotype.
Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations. XX gonadal dysgenesis is related to Swyer syndrome, since both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY. Gonadectomy is recommended in individuals with Swyer syndrome due to the ...