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It can be associated with genetic causes, autoimmune disease, enzyme deficiency, infection, environmental factors, radiation, or surgery in 10%. [15] Two to 5% of women with POI and a premutation in FMR1, a genetic abnormality, are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. [8] [6]
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 ...
Hypoestrogenism, or estrogen deficiency, refers to a lower than normal level of estrogen. It is an umbrella term used to describe estrogen deficiency in various conditions. Estrogen deficiency is also associated with an increased risk of cardiovascular disease, [1] and has been linked to diseases like urinary tract infections [2] and osteoporosis.
46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency This condition is inherited in an autosomal recessive manner [ 1 ] Leydig cell hypoplasia (or aplasia ) ( LCH ), also known as Leydig cell agenesis , is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 ...
If CAH is caused by the deficiency of the 21-hydroxylase enzyme, then treatment aims to normalize levels of androstenedione, but normalization of 17α-hydroxyprogesterone is a sign of overtreatment. [32] Treatment can be monitored by measuring androstenedione and 17α-hydroxyprogesterone levels in blood or saliva. [32]
A study has revealed that serum progesterone concentrations in boys (10 days to 18 years old) with 21-hydroxylase deficiency reached levels up to 10.14 ng/mL, i.e. similar to female luteal values, while in the control group of boys average level was 0.07 ng/mL (0.22 nmol/L), with values ranging from 0.05 to 0.40 ng/mL. [38]
Because of the normal aldosterone level, hypertension is not expected. Normal cortisol level can be explained by the strong negative feedback mechanism of cortisol on hypothalamus-pituitary axis system. That is, in the beginning, 17,20-lyase deficiency will block synthesis of sex steroid hormones, forcing the pathways to produce more cortisol.
Hypoprolactinemia can result from autoimmune disease, [2] hypopituitarism, [1] growth hormone deficiency, [2] hypothyroidism, [2] excessive dopamine action in the tuberoinfundibular pathway and/or the anterior pituitary, and ingestion of drugs that activate the D 2 receptor, such as direct D 2 receptor agonists like bromocriptine and pergolide, and indirect D 2 receptor activators like ...