Congenital adrenal hyperplasia has a deficiency in which enzymes?
21 beta-hydroxylase (in 95% of case) 11 beta-hydroxylase (in about 5%) 17 alpha-hydroxylase (rare)
Which hormone(s) is/are deficient in 21-beta hydroxylase deficiency congenital adrenal hyperplasia?
Cortisol and aldosterone
Which hormone is in excess in 21-beta hydroxylase deficiency congenital adrenal hyperplasia?
Androgen
Virilization, the development of male physical characteristics in a female or precociously in a boy, is a result of excess ________, seen in _________
Androgen Congenital adrenal hyperplasia, 21 beta hydroxylase deficiency
21-hydroxylased deficiency Congenital adrenal hyperplasia has _____ ACTH, ______ cortisol. Adrenal gland is _____ (size), and synthesis of adrenal precursor steroid is ____.
Increased Decreased Hyperplasia Increased
Infants with deficiency of _______ can present with shock.
21-hydroxylase (congenital adrenal hyperplasia)
Salt-wasting is associated with ______aldosteronism, and this is seen in ______
Hypoaldosteronism. Large amount of sodium in urine which can 21-hydroxylase deficiency Congenital adrenal hyperplasia
T/F: Kid with 21-hydroxylase deficiency would have a delayed growth spurtTrue False
False; early growth spurt but then shorter than average height in patient with congenital adrenal hyperplasia
21-hydroxylase deficiency is mutation in _____ gene
CYP21A2
CYP21A2 is a gene that makes enzyme _____
21-hydroxylase – important in cortisol and aldosterone production
T/F: 21-hydroxylase deficiency causes an accumulation of substances usually used to form cortisol and aldosterone which are converted to androgensTrue False
True
What is the gene mutation in 11 beta hydroxylase deficiency?
CYP11B1
Excess production of androgen is seen in which enzyme deficiency of congenital adrenal hyperplasia?
11 beta hydroxylase 21 beta hydroxylase
T/F: 11 beta hydroxylase deficiency is very rare form of congenital adrenal hyperplasiaTrue False
False; 17 alpha hydroxylase deficiency is the rarest one of congenital adrenal hyperplasia
Congenital adrenal hyperplasia deficiencies have ______ inheritance pattern
Autosomal recessive in all three forms
High blood pressure in the first year of life Is common in ___
11 beta hydroxylase deficiency
Classic form of _______ hydroxylase deficiency, females have ambiguous external genitalia, normal reproductive organs
11 beta (non-classic form, female have normal genitalia and may develop excessive body hair and irregular mensturation)
Which of the congenital adrenal hyperplasia have females with normal external genitalia but underdeveloped internal reproductive organs
17 alpha Males with 17 alpha hydroxylase deficiency have abnormalities of externa genitalia (11 beta, females have ambiguous external genitalia, normal reproductive organs)
17 alpha hydroxylase have importance in production of which hormones?
glucocorticoids and sex hormones
11 beta hydroxylase is important in production of which hormones?
Cortisol and corticosterone
Deficiency of which enzyme will lead to build up of cortisol and corticosterone precursors, leading to conversions to androgen?
11 beta hydroxylase
11-beta hydroxylase deficiency would have salt _____ leading to _______
Salt retention Hypertension
17 alpha hydroxylase deficiency would have ____ blood pressure, ____ levels of potassium, and abnormal sexual development
What is the gene mutation in 17 alpha hydroxylase deficiency?
CYP17A1
______ deficiency leads to impaired glucocorticoid production and accumulations of ______. Which leads to ____ blood pressure and ____kaleima
17-alpha hydroxylase Mineralocorticoids High Hypo
21 beta-hydroxylase deficiency, blood pressure is _____, while the other two, the blood pressure would be _____
Low in 21 High in 11 and 17
T/F: 21 beta and 11 beta hydroxylase have similar presentation- virilization and, precocious puberty, female pseudohermaphroditismTrue False
True; while 17 alpha hydroxylase would have normal female external genitalia at birth, and delayed puberty
Accumulation of mineralcorticoids:_______
17 alpha hydroxylase deficiency. Leads to hypertension and hypokalemia
Which of the congenital adrenal hyperplasia has decreased sex hormones?
17 alpha hydroxylase deficiency
Which of the CAH is the only one that leads to hypokalemia?
17 alpha hydroxylase deficiency
T/F: all of the CAH types have decreased cortisolTrue False
True