ATP
Member
- Joined
- Oct 15, 2015
- Messages
- 279
That is all very interesting! I will definitely look into that. I appreciate all that information.Our family mutation is lack of the enzyme P450c11B that converts 11-Deoxycortisol to Cortisol. The result is very high blood salt levels leading to extremely high blood pressure, as well as dark skin patches, and high androgens. It doesn't seem to be your problem.
However, your symptoms (fatigue, unable to tolerate stress, hypothyroid symptoms, etc) seem to match with low cortisol, even though your blood work doesn't.
Familial glucorticoid deficiency involves a mutation of the ACTH receptor, located on chromosome 18p11, but only accounts for 20% of cases. The other genes are unknown (according to my article).
Congenital adrenal hyperplasia also comes in many forms. "Recent evidence points to a milder form with onset in adult life presenting with mild adrenal insufficiency and partial hypogonatropic hypogonadism. ...homozygous and heterozygous mutations have been described in the SF-1 gene that produce primary adrenal failure..."
Congenital lipoid adrenal hyperplasia is a rare form of adrenal steroidogenic defect...The disease results from mutations in the gene that encodes the steroidogenic acute regupatory protein (StAR) on chromosome 8p11, which regulates cholesterol uptake into the mitochondria in readiness for conversion to pregnenolone... Steroidogenesis is reduced to about 15% of normal... [this includes androgen steroidogenesis]
3B-HSD deficiency is a rare form of congenital adrenal hyperplasia. The nonclassic form is an attenuated enzyme defect with no major developmental abnormalities....Two genes encoding 3B-HSD have been localized to chromosome 1p13.1. These genes are HSD3B1 and HSD3B2.
A defect in 17a-hydroxylase/17,20-lyase will result in diminished production of cortisol and sex steroids. The enzyme defect affects steroid synthesis in both the adrenals and the gonads. Because of high corticosterone (B) levels, patients with P450c17 abnormalities do not manifest adrenal crises and therefore go undiagnosed, often until evaluated for abnormal pubertal development. At puberty, gonadotropins increase to very high concentrations, the low sex steroid production failing to provide adequate regulatory feedback. Phenotypically, such subjects may be similar to individuals with androgen insensitivity syndrome.
Plasma levels of corticosterone and 18-hydroxy-DOC and an elevated ratio of 18-hydroxycorticosterone to aldosterone are diagnostic of 17a deficiency, whereas low androgens to estrogens indicates the addition of 17,20-lyase deficiency. In long-standing untreated cases, refractory hypertension of considerable severity can develop.