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.

KEYWORDS

SF-1 - adrenal glands

REFERENCES

• 1 Sadovsky Y, Crawford P A, Woodson K G et al.. Mice deficient in the orphan receptor steroidogenic factor 1 lack adrenal glands and gonads but express P450 side-chain-cleavage enzyme in the placenta and have normal embryonic serum levels of corticosteroids.  Proc Natl Acad Sci U S A. 1995;  92 10939-10943
• 2 Ikeda Y, Luo X, Abbud R, Nilson J H, Parker K L. The nuclear receptor steroidogenic factor 1 is essential for the formation of the ventromedial hypothalamic nucleus.  Mol Endocrinol. 1995;  9 478-486
• 3 Shinoda K, Lei H, Yoshii H et al.. Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice.  Dev Dyn. 1995;  204 22-29
• 4 Parker K L, Schimmer B P. Steroidogenic factor 1: a key determinant of endocrine development and function.  Endocr Rev. 1997;  18 361-377
• 5 Sadovsky Y, Crawford P A. Developmental and physiologic roles of the nuclear receptor steroidogenic factor-1 in the reproductive system.  J Soc Gynecol Investig. 1998;  5 6-12
• 6 Achermann J C, Ito M, Hindmarsh P C, Jameson J L. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal and failure in humans.  Nat Genet. 1999;  22 125-126
• 7 Luo X, Ikeda Y, Parker K L. A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.  Cell. 1994;  77 481-490
• 8 Ingraham H A, Lala D S, Ikeda Y et al.. The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis.  Genes Dev. 1994;  8 2302-2312
• 9 Ito M, Achermann J C, JL Jameson. A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes.  J Biol Chem. 2000;  275 31708-31714
• 10 Dorn C, Ou Q, Svaren J, Crawford P A, Sadovsky Y. Activation of luteinizing hormone beta gene by gonadotropin-releasing hormone requires the synergy of early growth response-1 and steroidogenic factor-1.  J Biol Chem. 1999;  274 13870-13876
• 11 Zhao L, Bakke M, Parker K L. Pituitary-specific knockout of steroidogenic factor 1.  Mol Cell Endocrinol. 2001;  185(1-2) 27-32
• 12 Biason-Lauber A, Schoenle E J. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency.  Am J Hum Genet. 2000;  67 1563-1568
• 13 Achermann J C, Ozisik G, Ito M et al.. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.  J Clin Endocrinol Metab. 2002;  87 1829-1833
• 14 Andersson A M, Toppari J, Haavisto A M et al.. Longitudinal reproductive hormone profiles in infants: peak of inhibin B levels in infant boys exceeds levels in adult men.  J Clin Endocrinol Metab. 1998;  83 675-681
• 15 Welt C K, Admas J M, Sluss P M, Hall J E. Inhibin A and inhibin B responses to gonadotropin withdrawal depends on stage of follicle development.  J Clin Endocrinol Metab. 1999;  84 2163-2169
• 16 Winter J S, Hughes I A, Reyes F I, Faiman C. Pituitary-gonadal relations in infancy: 2. patterns of serum gonadal steroid concentrations in man from birth to two years of age.  J Clin Endocrinol Metab. 1976;  42 679-686
• 17 Achermann J C, Silverman B L, Habiby R L, Jameson J L. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1.  J Pediatr. 2000;  137 878-881
• 18 Achermann J C, Meeks J J, Jameson J L. Phenotypic spectrum of mutations in DAX-1 and SF-1.  Mol Cell Endocrinol. 2001;  185(1-2) 17-25