Because the adrenal zona glomerulosa is undifferentiated and inactive before delivery, it is undamaged at birth and can make aldosterone for a while, so the eventual salt-wasting crisis develops more gradually and variably than with severe 21-hydroxylase-deficient CAH.
[citation needed] Most come to medical attention between 2 weeks and 3 months of age, when after a period of poor weight gain and vomiting, they were found to be dehydrated, with severe hyponatremia, hyperkalemia, and metabolic acidosis ("Addisonian or adrenal crisis").
In some cases, the condition is more mild with signs and symptoms of mineralocorticoid and glucocorticoid deficiency appearing after months or even years (late onset).
An inadequate cortisol response to stress undoubtedly hastens the deterioration as dehydration develops, can cause hypoglycemia, and contributes to the high mortality rate in infancy.
[citation needed] Prenatal production of DHEA by the fetal adrenal glands is impaired, resulting in abnormally low maternal estriol levels by the middle of pregnancy.
The effects of impaired progesterone production from placental cells that originate from the affected baby (trophoblasts) in the case of lipoid CAH due to P450scc deficiency are still unclear, but are thought to result in miscarriage when the deficit in the enzyme's activity are severe enough.
[citation needed]The results of reduced or absent testosterone output by fetal Leydig cells in the male is detailed below.
[citation needed] The genitalia of XY fetuses with lipoid CAH are severely undervirilized due to impairment of steroid hormone synthesis.
[citation needed] In addition to the testes remaining inside, formation of the penis, also dependent on testosterone, is compromised.
[citation needed] Milder, late onset cases of lipoid CAH have been described that arise from less severe mutations that compromise but do not eliminate the ability of StAR to instigate steroid production.
[citation needed] Congenital adrenal hyperplasias are a family of autosomal recessive diseases resulting from defects in steps of the synthesis of steroid hormones from cholesterol.
Unlike in models of the disease in mice, patients with lipoid CAH do not always have enlarged adrenals due to lipid accumulation.
Normally, adrenal steroids then signal their presence to the brain to moderate ACTH levels (feedback inhibition).
When the mutation in P450scc that causes lipoid CAH is either heterozygous or its presence on both alleles does not completely destroy all function, affected babies can survive to birth as well.
Third, lipid accumulation damages the testes and ovaries so that even with appropriate adrenal hormone replacement (and in the absence of other intervention), gonadal function and fertility cannot be preserved.
[8] In a case report in 2009, a woman with late onset lipoid CAH due to StAR deficiency underwent hormone replacement therapy in combination with an assisted fertility technique, intracytoplasmic sperm injection.
The testes are uniformly nonfunctional and undescended; they are removed when the diagnosis is made due to the risk of cancer development in these tissues.