These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Aromatase Deficiency due to a Novel Mutation in Unal E; Yıldırım R; Taş FF; Demir V; Onay H; Haspolat YK J Clin Res Pediatr Endocrinol; 2018 Nov; 10(4):377-381. PubMed ID: 29553041 [TBL] [Abstract][Full Text] [Related]
3. Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization. Zhu WJ; Cheng T; Zhu H; Han B; Fan MX; Gu T; Zhao SX; Liu Y; Cheng KX; Song HD; Qiao J Mol Cell Endocrinol; 2016 Sep; 433():66-74. PubMed ID: 27256151 [TBL] [Abstract][Full Text] [Related]
4. Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies. Bouchoucha N; Samara-Boustani D; Pandey AV; Bony-Trifunovic H; Hofer G; Aigrain Y; Polak M; Flück CE Mol Cell Endocrinol; 2014 Jun; 390(1-2):8-17. PubMed ID: 24705274 [TBL] [Abstract][Full Text] [Related]
5. Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia. Mazen I; McElreavey K; Elaidy A; Kamel AK; Abdel-Hamid MS Sex Dev; 2017; 11(5-6):275-279. PubMed ID: 29324451 [TBL] [Abstract][Full Text] [Related]
6. A Novel Homozygous Dursun F; Ceylaner S J Clin Res Pediatr Endocrinol; 2019 May; 11(2):196-201. PubMed ID: 30074481 [TBL] [Abstract][Full Text] [Related]
7. Aromatase deficiency: A case series of 46, XX Chinese children and a systematic review of the literature. Fan L; Zhang B; Li L; Gong C Clin Endocrinol (Oxf); 2020 Dec; 93(6):687-695. PubMed ID: 32623730 [TBL] [Abstract][Full Text] [Related]
8. Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the Özen S; Atik T; Korkmaz Ö; Onay H; Gökşen D; Özkınay F; Çoğulu Ö; Darcan Ş J Clin Res Pediatr Endocrinol; 2020 Mar; 12(1):109-112. PubMed ID: 30968679 [TBL] [Abstract][Full Text] [Related]
9. Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. Deladoëy J; Flück C; Bex M; Yoshimura N; Harada N; Mullis PE J Clin Endocrinol Metab; 1999 Nov; 84(11):4050-4. PubMed ID: 10566648 [TBL] [Abstract][Full Text] [Related]
10. Aromatase deficiency caused by mutation of Li H; Fu S; Dai R; Sheng Z; Liu W Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2022 Jun; 47(6):794-800. PubMed ID: 35837780 [TBL] [Abstract][Full Text] [Related]
11. A case of female pseudohermaphroditism caused by aromatase deficiency. Nagasaki K; Horikawa R; Fujisawa K; Hata I; Shigematsu Y; Tanaka T Clin Pediatr Endocrinol; 2004; 13(1):59-64. PubMed ID: 24790299 [TBL] [Abstract][Full Text] [Related]
12. A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue. Acar S; Erbaş İM; Paketçi A; Onay H; Çankaya T; Gürsoy S; Özhan B; Abacı A; Özer E; Olguner M; Böber E; Demir K Turk J Pediatr; 2020; 62(5):826-830. PubMed ID: 33108086 [TBL] [Abstract][Full Text] [Related]
13. A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). Conte FA; Grumbach MM; Ito Y; Fisher CR; Simpson ER J Clin Endocrinol Metab; 1994 Jun; 78(6):1287-92. PubMed ID: 8200927 [TBL] [Abstract][Full Text] [Related]
14. Growth and hormonal profile from birth to adolescence of a girl with aromatase deficiency. Verma N; Jain V; Birla S; Jain R; Sharma A J Pediatr Endocrinol Metab; 2012; 25(11-12):1185-90. PubMed ID: 23329769 [TBL] [Abstract][Full Text] [Related]
15. Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. Belgorosky A; Pepe C; Marino R; Guercio G; Saraco N; Vaiani E; Rivarola MA J Clin Endocrinol Metab; 2003 Nov; 88(11):5127-31. PubMed ID: 14602738 [TBL] [Abstract][Full Text] [Related]
16. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. Morishima A; Grumbach MM; Simpson ER; Fisher C; Qin K J Clin Endocrinol Metab; 1995 Dec; 80(12):3689-98. PubMed ID: 8530621 [TBL] [Abstract][Full Text] [Related]