What is salt losing form of congenital Adrenogenital hyperplasia?
Salt-wasting CAH is the severe form of classic 21-hydroxylase deficiency. In this type of CAH, the adrenal glands make too little aldosterone, causing the body to be unable to retain enough sodium (salt). Too much sodium is lost in urine (thus the name, “salt-wasting”).
How does congenital adrenal hyperplasia cause hyponatremia?
Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency. 21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia.
What will be the symptoms of patients that have a severe deficiency in 21-hydroxylase explain your answer?
Females with the non-classic type of 21-hydroxylase deficiency have normal female genitalia, but when they get older, symptoms may include excessive hair growth (hirsutism), male pattern baldness, irregular periods and reduced fertility.
What is salt losing Adrenogenital syndrome?
In its most severe form, called salt-wasting (or salt-losing) CAH, where there is a total or near total deficiency of the 21-hydroxylase enzyme, a life-threatening adrenal crisis can occur if the disorder is untreated. Adrenal crisis can cause dehydration , shock, and death within 14 days of birth.
How is non classical adrenal hyperplasia treated?
Non-classical adrenal hyperplasia can be treated effectively using drugs called corticosteroids. The treatment slows growth in children and delays puberty so that it can start on time. In adult women, this treatment can be used to regulate the menstrual cycle, prevent hairiness and acne, as well as improving fertility.
What causes salt wasting?
The exact mechanism underlying cerebral salt-wasting syndrome remains unclear. In the setting of cerebral injury, one hypothesis is that an exaggerated renal pressure–natriuresis response caused by increased activity of the sympathetic nervous system and dopamine release is responsible for urinary sodium loss.
Why would a deficiency in 21-hydroxylase lead to excessive androgen production?
When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens. The excess production of androgens leads to abnormalities of sexual development in people with 21-hydroxylase deficiency.
Does CAH shorten life expectancy?
Results: Mean age of death was 41.2 ± 26.9 years in patients with CAH and 47.7 ± 27.7 years in controls (P < . 001). Among patients with CAH, 23 (3.9%) had deceased compared with 942 (1.6%) of controls.