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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 ]
5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by a mutation in SRD5A2, a gene encoding the enzyme 5α-reductase type 2 (5αR2). The condition is rare, affects only genetic males, and has a broad spectrum.
The age at which puberty begins is affected by both genetic factors and by environmental factors such as nutritional state and social circumstances. [71] An example of social circumstances is the Vandenbergh effect ; a juvenile female mouse who has significant interaction with adult male mice will enter puberty earlier than juvenile females who ...
Starting puberty significantly early — younger than age 8 in girls, 9 in boys — may have health effects lasting into adulthood, including higher risks of breast cancer, diabetes and heart disease.
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]
Some carriers have been noted to have slightly reduced body hair, delayed puberty, and/or tall stature, presumably due to skewed X-inactivation. [3] [4] A female carrier will pass the affected AR gene to her children 50% of the time. If the affected child is a genetic female, she, too, will be a carrier. An affected 46,XY child will have AIS.
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]
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 ...