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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]
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]
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.
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." [18] While more girls are increasingly entering puberty at younger ages, new research indicates that some boys are actually starting later (delayed puberty).
eIFB genes (EIF2B2, EIF2B4, and EIF2B5): involved in protein production, mutations have been associated with leukodystrophy and primary ovarian failure [17] [24] In cases of XX gonadal dysgenesis with hearing involvement (Perrault syndrome), the following genes are implicated: [25] LARS2, [26] HARS2: [27] two mitochondrial tRNA synthetase genes
[1]: 25 Prenatal factors that affect or interfere with the interaction of these hormones on the developing brain can influence later sex-typed behavior in children. [ 1 ] : 24 This hypothesis is originated from experimental studies in non-human mammals, yet the argument that similar effects can be seen in human neurobehavioral development is a ...
Puberty is considered delayed when the child has not begun puberty when two standard deviations or about 95% of children from similar backgrounds have. [7] [8] [9]In North American girls, puberty is considered delayed when breast development has not begun by age 13, when they have not started menstruating by age 15, [2] and when there is no increased growth rate. [8]