title: The rare occurrence of absent adrenals in a term infant: a case report and review of the literature.
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.
authors.affiliation: Department of Pediatrics, Division of Newborn Medicine, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri, USA.
authors.forename: Akshaya
authors.initials: A
authors.lastname: Vachharajani
authors.forename: Kathleen
authors.initials: K
authors.lastname: Bethin
authors.forename: Jean-Francois
authors.initials: JF
authors.lastname: Mouillet
authors.forename: Yoel
authors.initials: Y
authors.lastname: Sadovsky
authors.forename: Scott
authors.initials: S
authors.lastname: Saunders
mesh_terms: D000307:Adrenal Gland Diseases / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D000311:Adrenal Glands / Q000002:abnormalities*; D000328:Adult; D001034:Apgar Score; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D018398:Homeodomain Proteins / Q000737:chemistry*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011110:Polymorphism, Genetic; D011247:Pregnancy; D035583:Rare Diseases; D018160:Receptors, Cytoplasmic and Nuclear / Q000737:chemistry*; D012121:Respiration, Artificial; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000628:therapy; D054339:Steroidogenic Factor 1; D047929:Term Birth; D014157:Transcription Factors / Q000737:chemistry*
chemical_list: D018398:Homeodomain Proteins; D018160:Receptors, Cytoplasmic and Nuclear; D054339:Steroidogenic Factor 1; D014157:Transcription Factors