TY - JOUR
T1 - The rare occurrence of absent adrenals in a term infant
T2 - A case report and review of the literature
AU - Vachharajani, Akshaya
AU - Bethin, Kathleen
AU - Mouillet, Jean Francois
AU - Sadovsky, Yoel
AU - Saunders, Scott
PY - 2006/2
Y1 - 2006/2
N2 - 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.
AB - 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.
KW - Adrenal glands
KW - SF-1
UR - http://www.scopus.com/inward/record.url?scp=33644901270&partnerID=8YFLogxK
U2 - 10.1055/s-2006-931911
DO - 10.1055/s-2006-931911
M3 - Review article
C2 - 16506117
AN - SCOPUS:33644901270
SN - 0735-1631
VL - 23
SP - 111
EP - 114
JO - American journal of perinatology
JF - American journal of perinatology
IS - 2
ER -