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KS/HH is most often present from birth but adult onset versions are found in both males and females. In those cases, the hypothalamic-pituitary-gonadal axis (HPG axis) functions normally at birth and well into adult life, giving normal puberty and normal reproductive function. The HPG axis then either fails totally or is reduced to a very low ...
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]
Clinical presentations of CHH involve an absence of puberty by 18 years of age, poorly developed secondary sexual characteristics, or infertility. [ 12 ] In men with CHH, serum levels of inhibin B are typically very low as inhibin B is a marker of Sertoli cell number. [ 4 ]
Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. [2] It is an autosomal recessive disease resulting from various mutations of gene CYP19 (P450arom) which can lead to ambiguous genitalia and delayed puberty in females, continued linear growth into adulthood and osteoporosis in males and virilization ...
Glycogenic hepatopathy [1] (also known as Mauriac syndrome [2]) is a rare complication of type 1 diabetes characterized by extreme liver enlargement due to glycogen deposition, along with growth failure and delayed puberty. It occurs in some children and adolescents with type 1 diabetes irrespective of their glycemic control.
Hypogonadism is often discovered during evaluation of delayed puberty, but ordinary delay, which eventually results in normal pubertal development, wherein reproductive function is termed constitutional delay. It may be discovered during an infertility evaluation in either men or women. [8]
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Constitutional delay of growth and puberty (CDGP) is a term describing a temporary delay in the skeletal growth and thus height of a child with no physical abnormalities causing the delay. [1] Short stature may be the result of a growth pattern inherited from a parent (familial) or occur for no apparent reason (idiopathic).