The rare occurrence of absent adrenals in a term infant: A case report and review of the literature

Akshaya Vachharajani, Kathleen Bethin, Jean Francois Mouillet, Yoel Sadovsky, Scott Saunders

Research output: Contribution to journalReview article

5 Scopus citations

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.

Original languageEnglish
Pages (from-to)111-114
Number of pages4
JournalAmerican journal of perinatology
Volume23
Issue number2
DOIs
StatePublished - Feb 1 2006

Keywords

  • Adrenal glands
  • SF-1

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