Abstract
A female infant (gestational age, 37 weeks) presented with respiratory distress and pulmonary hypertension. Incidental to her clinical course, she was discovered by abdominal ultrasound to have absent adrenal glands bilaterally. This is the first case report of congenitally absent adrenal glands noted at birth. The exons of the patient's SF-1 gene were sequenced, and despite identifying a single nucleotide polymorphism that preserves proline at position 125 of SF-1, none of the previously identified mutations were detected in our samples. The known role of SF-1 and its mutations in adrenal gland development are discussed.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Review
MeSH terms
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Adrenal Gland Diseases / congenital
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Adrenal Gland Diseases / diagnosis
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Adrenal Gland Diseases / genetics*
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Adrenal Glands / abnormalities*
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Adult
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Apgar Score
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Female
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Follow-Up Studies
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Genetic Predisposition to Disease*
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Gestational Age
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Homeodomain Proteins / chemistry*
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Humans
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Infant, Newborn
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Mutation*
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Polymorphism, Genetic
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Pregnancy
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Rare Diseases
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Receptors, Cytoplasmic and Nuclear / chemistry*
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Respiration, Artificial
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Respiratory Distress Syndrome, Newborn / diagnosis*
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Respiratory Distress Syndrome, Newborn / therapy
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Steroidogenic Factor 1
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Term Birth
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Transcription Factors / chemistry*
Substances
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Homeodomain Proteins
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Receptors, Cytoplasmic and Nuclear
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Steroidogenic Factor 1
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Transcription Factors