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Previous Volume 340:1248-1252 April 22, 1999 Number 16 Next

	Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

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Adrenal hypoplasia congenita is a rare X-linked disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism.¹ All patients described to date have been male, and female carriers have had no clinical symptoms.^{1,2,3,4,5,6,7,8,9,10} Although most patients present with adrenal crisis in the neonatal period, the onset of adrenal insufficiency varies, even within a family, from the neonatal period to 10 years of age.^1,3,4,9

The gene responsible for this disorder, DAX1, is on the short arm of the X chromosome¹¹ and encodes a 470-amino-acid member of the nuclear hormone receptor superfamily. The DNA-binding domain consists of amino acid repeats rather than the . . . [Full Text of this Article]

Case Report

Methods

DNA Extraction, Amplification, and Sequencing of the DAX1 Gene

Subcloning

Sequence-Specific Oligonucleotide Hybridization

Hormonal Measurements

Results

Discussion

Source Information

From the Developmental Endocrinology Branch, National Institute of Child Health and Human Development (D.P.M., T.T., J.B., G.B.C.); and the U.S. Public Health Service (D.P.M., J.B.) — both in Bethesda, Md.

Address reprint requests to Dr. Merke at DEB/NICHD/NIH, Bldg. 10, Rm. 10N262, 10 Center Dr., MSC 1862, Bethesda, MD 20892-1862, or at deborah_merke@nih.gov.

References

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