Aromatase deficiency: An unusual cause for primary amenorrhea with virilization

Journal of Association of Physicians of India

Volumn 61, Issue 5, 2013, Pages 340-342

  Sudeep, K ^a   Abraham, Joison ^a   Seshadri, Lakshmi ^a   Seshadri, M S ^a  

^a CHRISTIAN MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE;

ADULT; AMENORRHEA; AROMATASE DEFICIENCY; ARTICLE; CASE REPORT; DISORDER OF SEX DEVELOPMENT; FEMALE; GONADAL DISEASE; GYNECOMASTIA; HUMAN; INBORN ERROR OF METABOLISM; MALE INFERTILITY;

46, XX DISORDERS OF SEX DEVELOPMENT; ADULT; AMENORRHEA; AROMATASE; FEMALE; GYNECOMASTIA; HUMANS; INFERTILITY, MALE; METABOLISM, INBORN ERRORS; VIRILISM;

EID: 84877294059     PISSN: 00045772     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (4)

1. Serdar E Bulun. Aromatase deficiency and estrogen resistance: From molecular genetics to clinic: Semin Reprod Med 2000;18.
2. Keisuke Nagasaki, Reiko Horikawa, Kazuo Fujisawa, Ikue Hata, Yosuke Shigematsu and Toshiaki Tanaka. A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency. Clin pediatr Endocrinol 2004;13:59-64.
3. Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER. A syndrome of female pseudohermophrodism, hypergonadotrophic hypogonadism and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450 arom). J Clin Endocrinol Metab 1994;78:1287-92.
4. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995;80:3689-98.