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 ?
ISLAMABAD -- Khalil Mohammad Mehar, the bus driver who saved the lives of the visiting Sri Lankan players in Pakistan in March 2009, has won the Best Driver award for year 2018.The award was presented to him by the DSP (Deputy Superintendent of Police) Mr.Waqar Shab."It is an Annual award given to the driver for driving a distance of about 500 km between Lahore and Islamabad on Motorway M-2 and AH1 and M 1", speaking exclusively, he said.
The new fleet is entirely twin-engine, replacing the single engine Squirrel in service, l ll h li t as nearly all helicopters now operated by the UK military are twin-engined, apart from the Gazelle AH1.
An AH1 attack helicopter made an emergency landing on the premises of a hotel in the village of Yomitan after a warning light had come on.
(105) A representative of a pharmaceutical industry trade association, the Animal Health Institute (AH1), agrees with that estimate.
Thus, we diagnosed the patient with PCAR (Banff 2013 classification: i2, t2, g0, ptc1, v0, ci0, ct0, cg0, cv0, ah1, and aah0).
EA were administered at a set of GV20, Santai, Ergen (AH1), and Sanyangluo (TE8), and four different frequencies, such as 0, 2, 60, and 100 Hz, were used.
Chopade, "Isolation, characterization and antimicrobial activity of marine halophilic Actinopolyspora species AH1 from the west coast of India," Current Science, vol.
Unlike India, Pakistan uses its American AH1 Cobra gunships extensively against even suspected civilians as can be seen in its Operation Zarb- e- Azb in Taliban and Baloch areas within its own country.