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

American Journal of Perinatology
Akshaya VachharajaniScott Saunders

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.

Citations

May 31, 2014·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Colleen D'ArcySophie Bittinger
Jul 21, 2009·Molecular and Cellular Endocrinology·Erling A HoivikMarit Bakke
Sep 5, 2014·Indian Journal of Pediatrics·Somosri RayTapas Sabui
Feb 27, 2016·Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo·Maiana Darwich MendesMaria Aparecida Gadiani Ferrarini

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