Abstract
We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.
MeSH terms
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Adrenal Glands / diagnostic imaging
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Adrenal Insufficiency / diagnosis*
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Adrenal Insufficiency / diagnostic imaging
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Adrenal Insufficiency / genetics*
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Adrenocorticotropic Hormone / blood
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Child, Preschool
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DAX-1 Orphan Nuclear Receptor
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics
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Genetic Linkage
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Glucocorticoids / deficiency
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Heterozygote
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Humans
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Hydrocortisone / blood
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Infant
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Infant, Newborn
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Male
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Mineralocorticoids / deficiency
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Mutation
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Pedigree
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Receptors, Retinoic Acid / genetics
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Renin / blood
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Repressor Proteins*
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Transcription Factors / genetics
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Ultrasonography
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X Chromosome*
Substances
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DAX-1 Orphan Nuclear Receptor
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DNA-Binding Proteins
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Glucocorticoids
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Mineralocorticoids
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NR0B1 protein, human
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Receptors, Retinoic Acid
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Repressor Proteins
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Transcription Factors
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Adrenocorticotropic Hormone
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Renin
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Hydrocortisone