Infant steroid hormones

Two retinoids, retinoic acid and retinal, appear to have most of the biochemical functions attributed to vitamin A Retinoic acid is required for cell differentiation and is the ligand for two families of nuclear receptors, RAR . y and RXR 0 y. These receptors are part of a family of superreceptors that include the steroid hormones and cholecalciferol. Vitamin A deficiency can lead to a variety of symptoms depending on the age of the deficient person. The most serious syndrome is keratomalacia, which results in desiccation, ulceration, and xerophthalmia of the cornea and conjunctiva. It is one of the leading causes of blindness in infants and children. 

Severe deficiency disease has only been reported in a single outbreak in infants fed overheated formula. However, a significant proportion of people in developed countries have marginal vitamin Bg status, and this may be associated with enhanced responsiveness to steroid hormone action and may be a factor in the development of hormone-dependent cancer of the breast, uterus, and prostate. A number of drugs have antivitamin activity, and prolonged use may lead to secondary development of pellagra, as a result of impaired tryptophan metabolism. 

Ectopic as well as intrauterine pregnancy may occur in contraceptive failures. Lactation Hormonal contraceptives may interfere with lactation, decreasing both the quantity and the quality of breast milk. A small amount of OC steroids is excreted in breast milk. A few adverse effects on the nursing infant have been reported, including jaundice and breast enlargement. 

Steroids have been measured by GC-MS in umbilical cord blood, amniotic fluid, and infancy urine of affected infants, and almost no steroids are found [73]. Only traces of progesterone metabolites were detected. Serum samples from women carrying an LAH fetus have normal concentrations of progesterone metabolites, formed pla-centally, since this organ produces the hormone independently of the StAR protein mechanism. 

NBS became a state-mandated public health measure to ensure all infants were screened in part due to the savings achieved by avoiding institutionalization of affected and untreated individuals. NBS expanded somewhat over the next two decades with a few additional assays for amino acid, steroid, carbohydrate, and congenital hormone deficiencies. MS did not have a role in NBS until the 1990s, when a DBS analysis of amino acids was developed [2]. 

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