Adrenal Hypoplasia Congenital, X-linked (Adrenal Hypoplasia)

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Definition

There are four types of congenital adrenal hypoplasia that have been recognized and they are the following: an X-linked type or the OMIM 300200 which is caused by a deletion or mutation of the AHCH gene or the DAX1 gene (found in the X chromosome dosage-receptive sex reversal adrenal hypoplasia congenital vital region). This type is often linked with hypogonadotropic hypogonadism. It might be a component of an adjacent deletion of chromosome (this may include congenital adrenal hypoplasia, OMIM 310200 or the Duchenne muscular dystrophy and OMIM 307030 or glyce3rol kinase deficiency; the second type is the autosomal recessive type and it is caused by a deletion or mutation of the gene which is responsible for coding for SF-1 or steroidogenic factor 1 on OMIM 184757 or chromosome 9q99. This type is also linked with hypogonadotropic hypogonadism; The third type is an autosomal recessive type. This type has a vague etiology (or OMIM 240200); The fourth type of adrenal hypoplasia which is linked with the retardation of intrauterine growths, genital defects, and metaphysical dysplasia is the OMIM 300290 or the IMAGe (intrauterine growth retardation, metaphysical dysplasia, adrenal hypoplasia congenital, genital defects) association. The X-linked type adrenal hypoplasia congenital is a disease which is mainly acquired by males. It usually involves several endocrine tissues of the body most especially the gmall glands above the kidneys or the adrenal glands. The characteristics that often manifest are a reduction in the function of the adrenal gland; hypoglycemia; dehydration, feeding difficulties; and shock. Other male patients might also be sexually underdeveloped. The females who are rarely affected also have adrenal insufficiency and a deficiency of sex hormones.

Frequency

Globally, congenital adrenal hypoplasia is a very rare disease. Even though the estimated frequency in Japan is at 1 in every 12,500 births, the indication of clinical experience gears towards the disease being uncommon as compared to the other form which is congenital adrenal hyperplasia caused by deficiency of 21-hydroxylase (estimated to be at 1 in every 10,000-15,000 birth globally).

Mortality/Morbidity

X-linked congenital adrenal hypoplasia is fatal except if promptly treated. With the appropriate medical treatment, individuals who suffer from this disease do well except when they are also down with the Duchenne muscular dystrophy. The deficiency of glycerol kinase results into hyperglyceridemia. This is caused by a factitious elevation of a concentration of serum triglyceride. The sufferers of congenital adrenal hypoplasia due to deletion or mutation of SF1 or DAX 1 acquire hypogonadotropic hypogonadism. Those patients who have the X-linked type have been diagnosed with senrorineural deafness or OMIM 300200. Those who have the IMAGe have intrauterine growth defects, genital and skeletal abnormalities.

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