Aromatase Deficiency: Rare Cause of Virilization

Eur J Pediatr Surg 2013; 23(05): 418-422
DOI: 10.1055/s-0032-1324798

Case Gallery

Georg Thieme Verlag KG Stuttgart · New York

Barbara Ludwikowski

¹Department of Pediatric Surgery and Urology, Kinder- und jugendkrankenhaus auf der Bult, Hannover, Germany

,

Sabine Heger

²Department of Pediatric Endocrinology, Kinder- und jugendkrankenhaus auf der Bult, Hannover, Germany

,

Nicolin Datz

²Department of Pediatric Endocrinology, Kinder- und jugendkrankenhaus auf der Bult, Hannover, Germany

,

Annette Richter-Unruh

³Department of Endocrinology, Endokrinologikum Bochum, Bochum, Germany

,

Ricardo González

¹Department of Pediatric Surgery and Urology, Kinder- und jugendkrankenhaus auf der Bult, Hannover, Germany

References
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2 Belgorosky A, Guercio G, Pepe C, Saraco N, Rivarola MA. Genetic and clinical spectrum of aromatase deficiency in infancy, childhood and adolescence. Horm Res 2009; 72 (6) 321-330
3 Hauri-Hohl A, Meyer-Böni M, Lang-Muritano M, Hauri-Hohl M, Schoenle EJ, Biason-Lauber A. Aromatase deficiency due to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. Clin Endocrinol (Oxf) 2011;
4 Meinhardt U, Mullis PE. The aromatase cytochrome P-450 and its clinical impact. Horm Res 2002; 57 (5-6) 145-152
5 Lin L, Ercan O, Raza J , et al. Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab 2007; 92 (3) 982-990
6 Bulun SE. Aromatase deficiency and estrogen resistance: from molecular genetics to clinic. Semin Reprod Med 2000; 18 (1) 31-39