Master 17 Alpha Hydroxylase Deficiency with Picmonic for Medicine

Normally, 17 alpha hydroxylase enzyme is necessary to convert pregnenolone to 17-hydroxypregnenolone and progesterone to 17-hydroxyprogesterone, which are necessary for sex hormone and cortisol production. Deficiency of this enzyme therefore leads to decreased cortisol and sex hormone synthesis.

17 alpha hydroxylase deficiency results in a back up of mineralocorticoids such as 11 deoxycorticosterone (DOC). The elevated DOC levels from the zona glomerulosa can lead to salt retention, volume expansion, hypertension, hypokalemia, and down-regulation of the renin-angiotensin axis. This secondarily inhibits aldosterone production, which typically is virtually absent in affected patients.

DOC stimulates the reabsorption of sodium, secretion of potassium, and increased water retention in the kidneys. Therefore, increased DOC and mineralocorticoid levels result in hypertension and hypokalemia.

DOC stimulates the reabsorption of sodium, secretion of potassium, and increased water retention in the kidneys. Therefore, increased DOC and mineralocorticoid levels result in hypertension and hypokalemia.

Loss of sex hormone synthesis results in males with XY chromosomes to be externally phenotypically female but lack internal reproductive structures like ovaries and uterus due to the presence of Mullerian Inhibitory Factor.

Loss of sex hormone synthesis results in males with XY chromosomes to be externally phenotypically female but lack internal reproductive structures like the uterus and fallopian tubes due to the presence of Mullerian Inhibitory Factor. Mullerian inhibitory factor, also called Anti Mullerian Hormone, inhibits the development of Mullerian ducts in the male embryo which develop to form the Fallopian tubes, uterus, cervix, and upper two third of the vagina in females.

Females with XX chromosomes remain externally phenotypic females with normal internal sex organs.

Females with XX chromosomes remain externally phenotypic females with normal internal sex organs but lack secondary sexual characteristics, commonly called sexual infantilism.