lipoid congenital adrenal hyperplasia

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lipoid congenital adrenal hyperplasia

The most severe form of adrenal hyperplasia (OMIM:201710), which is characterised by profound adrenocortical insufficiency of neonatal onset, hyperpigmentation due to increased production of pro-opiomelanocortin, elevated plasma renin secretion due to reduced aldosterone synthesis, and male pseudohermaphroditism due to deficient foetal testicular testosterone synthesis. Affected infants are phenotypically female regardless of gonadal sex, and die in infancy if mineralocorticoid and glucocorticoid replacement is not begun immediately.

Molecular pathology
Defects of STAR, which encodes a protein that plays a key role in steroid hormone synthesis, cause lipoid congenital adrenal hyperplasia.
References in periodicals archive ?
The AH1 is in service at least with an export customer, Algeria.
The facility repairs all models of the T53 engine, as well as main transmissions and major components for helicopter models including the UH1H, 205, 212, 206, OH58 and AH1 helicopters that are used in firefighting, armed forces and law enforcement operations worldwide.
A lineal relation between the AH1 values and the hard segment content can be seen.
In the helicopter category, Sikorsky showed off their S76C, while competitor, Bell, showed off their AH1 Cobra, with both the Bahrain and US forces, also displaying OactiveO helis of various other makes, including the famous OBlackhawk.
6 Hypertension, % 21 44 Hyperlipidemia, n (%) 22(52) 12(48) Diabetes mellitus, n (%) 17(41) 11 (44) Current smoking, n (%) 21 (50) 14(56) SBP mmHg 125[+ or -]17 146[+ or -]28 DBP mmHg 84[+ or -]11 92[+ or -]17 AH1 /hour 9.
Unless we go for mergers and create sizable mutual funds we cannot achieve economy of scale which is so essential to cut costs," says Mr Basharatullah adding that the move for the merger of AH1 with MCB mutual fund is a step in this direction.
5 million contract to provide sustainment and support services for the targeting systems installed on the British Army's Westland/Boeing Apache AH1 attack helicopters.
As well as checking out military weapons and exploring the vehicles on display, which included a Gazelle AH1 helicopter, a 70-tonne Challenger II tank and a Warrior Armoured Fighting Vehicle, the students were also treated to a military display by soldiers from the Royal Corps of Signals, who are soon to be deployed to Afghanistan.
Tonight, the AH1 gets its engine fixed at last and is back operating, while the AH2 continues its quest to join up with its sister ship.