SERKAL syndrome (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) is an autosomal recessive disorder in XX humans. It is caused by loss of function in WNT4, a protein involved in sex development. The main outcome is female to male sex reversal. Other names include sex reversion-kidneys and adrenal and lung dysgenesis syndrome. The conditions prevalence is lower than 1 in 1,000,000. Presentation
The effect of the disorder is female to male sex reversal. Patients also exhibit renal, adrenal, and lung dysgenesis. One indicator is low levels of unconjugated estriol in maternal serum, because this denotes adrenal hypoplasia. Genetics
The disorder is linked to a mutation in the Wnt4 gene. There is an intraexonic homozygous C to T transition at cDNA position 341. This leads to an alanine to valine residue substitution at amino acid position 114, a location highly conserved in all organisms, including zebrafish and Drosophila. A subsequent influence on mRNA stability leads to protein loss of function. WNT4 usually represses male sex development. Diagnosis
References
External links
SERKAL syndrome (The Monarch Initiative)
Sodium phosphate is a generic term for a variety of salts of sodium (Na+) and phosphate (PO43−). Phosphate also forms families or condensed anions including di-, tri-, tetra-, and polyphosphates. Most of these salts are known in both anhydrous (water-free) and hydrated forms. The hydrates are more common than the anhydrous forms. Uses
Sodium phosphates have many applications in food and for water treatment. For example, sodium phosphates are often used as emulsifiers (as in processed cheese), thickening agents, and leavening agents for baked goods. They are also used to control pH of processed foods. They are also used in medicine for constipation and to prepare the bowel for medical procedures. Moreover, they are used in detergents for softening water, and as an efficient anti rust solution. Adverse effects
Sodium phosphates are popular in commerce in part because they are inexpensive and because they are nontoxic at normal levels of consumption. However, oral sodium phosphates when taken at high doses for bowel preparation for colonoscopy may in some individuals carry a risk of kidney injury under the form of phosphate nephropathy. There are several oral phosphate formulations which are prepared extemporaneously. Oral phosphate prep drugs have been withdrawn in the United States, although evidence of causality is equivocal. Since safe and effective replacements for phosphate purgatives are available, several medical authorities have recommended general disuse of oral phosphates. Monophosphates
Three families of sodium monophosphates are common, those derived from orthophosphate (PO43−), hydrogen phosphate (HPO42−), and dihydrogenphosphate (H2PO4−).