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Mutations in genes such as LIN28, [25] [26] and LEP and LEPR, which encode leptin and the leptin receptor, [27] have been associated with precocious puberty. The association between LIN28 and puberty timing was validated experimentally in vivo, when it was found that mice with ectopic over-expression of LIN28 show an extended period of pre ...
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]
[20] [21] Puberty which starts earlier than usual is known as precocious puberty, and puberty which starts later than usual is known as delayed puberty. Notable among the morphologic changes in size, shape, composition, and functioning of the pubertal body, is the development of secondary sex characteristics , the "filling in" of the child's ...
The human 5α-reductase-2 gene (SRD5A2) is located on the short arm of chromosome 2 at band 23 and encodes a 254 amino acid protein, called 5α-reductase type 2. The 5α-reductase-1 gene (SRD5A1) is located in band 15 on the short arm of chromosome 5 and encodes a 259 amino acid protein, called 5α-reductase type 1.
Although there is a wide range of normal ages, females typically begin the process of puberty around age 10½; males at ages 11½—12. Puberty generally ends between 15—17 for females and 16–17 for males. [1] [2] [3] Females attain reproductive maturity about four years after the first physical changes of puberty appear. [13]
The number of genes known to cause cases of KS/CHH is still increasing. [16] In addition it is thought that some cases of KS/CHH are caused by two separate gene defects occurring at the same time. [8] Individual gene defects can be associated with specific symptoms which can help in identifying which genes to test for.
Mini-puberty is a transient hormonal activation of the hypothalamic-pituitary-gonadal (HPG) axis that occurs in infants shortly after birth. This period is characterized by a surge in the secretion of gonadotropins (LH and FSH) and sex steroids (testosterone in males and estradiol in females), similar to but less intense than the hormonal changes that occur in puberty during adolescence.
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.