U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 85

1.
Aromatase deficiency caused by mutation of CYP19A1 gene: A case report
LI Hongli, FU Songbo, DAI Ruchun, SHENG Zhifeng, LIU Wei
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jun 28; 47(6): 794–800. doi: 10.11817/j.issn.1672-7347.2022.210401
PMCID:
PMC10930014
AbstractArticlePDF–1014K
2.
Aromatase deficiency in a Chinese adult man caused by novel compound heterozygous CYP19A1 mutations: Effects of estrogen replacement therapy on the bone, lipid, liver and glucose metabolism
Zhike Chen, Ou Wang, Min Nie, Kathleen Elison, Dujin Zhou, Mei Li, Yan Jiang, Weibo Xia, Xunwu Meng, Shiuan Chen, Xiaoping Xing
Mol Cell Endocrinol. Author manuscript; available in PMC 2016 Jan 5.
Published in final edited form as: Mol Cell Endocrinol. 2015 Jan 5; 399: 32–42. Published online 2014 Oct 6. doi: 10.1016/j.mce.2014.09.016
PMCID:
PMC4457386
AbstractArticlePDF–824K
3.
A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency
Keisuke Nagasaki, Reiko Horikawa, Kazuo Fujisawa, Ikue Hata, Yosuke Shigematsu, Toshiaki Tanaka
Clin Pediatr Endocrinol. 2004; 13(1): 59–64. Published online 2004 Jul 7. doi: 10.1297/cpe.13.59
PMCID:
PMC4004915
AbstractArticlePDF–233K
4.
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
Edip Unal, Ruken Yıldırım, Funda Feryal Taş, Vasfiye Demir, Hüseyin Onay, Yusuf Kenan Haspolat
J Clin Res Pediatr Endocrinol. 2018 Dec; 10(4): 377–381. Published online 2018 Nov 29. doi: 10.4274/jcrpe.0011
PMCID:
PMC6280327
AbstractArticlePDF–448K
5.
A case of Aromatase deficiency due to a novel CYP19A1 mutation
Lucia Gagliardi, Hamish S Scott, Jinghua Feng, David J Torpy
BMC Endocr Disord. 2014; 14: 16. Published online 2014 Feb 19. doi: 10.1186/1472-6823-14-16
PMCID:
PMC3936939
AbstractArticlePDF–2.5M
6.
Aromatase Deficiency, a Rare Syndrome: Case Report
Emine Kartal Baykan, Mehmet Erdoğan, Samim Özen, Şükran Darcan, L. Füsun Saygılı
J Clin Res Pediatr Endocrinol. 2013 Jun; 5(2): 129–132. Published online 2013 May 30. doi: 10.4274/Jcrpe.970
Correction in:
J Clin Res Pediatr Endocrinol. 2013 Sep; 5(3): 216.
PMCID:
PMC3701920
AbstractArticlePDF–73K
7.
A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation
Fatma Dursun, Serdar Ceylaner
J Clin Res Pediatr Endocrinol. 2019 Jun; 11(2): 196–201. Published online 2019 May 28. doi: 10.4274/jcrpe.galenos.2018.2018.0140
PMCID:
PMC6571529
AbstractArticlePDF–439K
8.
Aromatase deficiency in hematopoietic cells improves glucose tolerance in male mice through skeletal muscle-specific effects
Katya B. Rubinow, Laura J. den Hartigh, Leela Goodspeed, Shari Wang, Orhan K. Oz
PLoS One. 2020; 15(1): e0227830. Published online 2020 Jan 23. doi: 10.1371/journal.pone.0227830
PMCID:
PMC6977739
AbstractArticlePDF–2.1M
9.
Child with ‘46, XX’ disorder of sex development: clues to diagnose aromatase deficiency
Saurav Shishir Agrawal, Partha Pratim Chakraborty, Anirban Sinha, Animesh Maiti
BMJ Case Rep. 2019; 12(12): e232575. Published online 2019 Dec 3. doi: 10.1136/bcr-2019-232575
PMCID:
PMC7001710
AbstractArticlePDF–1020K
10.
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
Samim Özen, Tahir Atik, Özlem Korkmaz, Hüseyin Onay, Damla Gökşen, Ferda Özkınay, Özgür Çoğulu, Şükran Darcan
J Clin Res Pediatr Endocrinol. 2020 Mar; 12(1): 109–112. Published online 2020 Mar 19. doi: 10.4274/jcrpe.galenos.2019.2018.0198
PMCID:
PMC7127884
AbstractArticlePDF–430K
11.
Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries.
Y Ito, C R Fisher, F A Conte, M M Grumbach, E R Simpson
Proc Natl Acad Sci U S A. 1993 Dec 15; 90(24): 11673–11677. doi: 10.1073/pnas.90.24.11673
PMCID:
PMC48046
SummaryPage BrowsePDF–1.4M
12.
Genetic studies to characterize the origin of the mutation in placental aromatase deficiency.
N Harada, H Ogawa, M Shozu, K Yamada
Am J Hum Genet. 1992 Sep; 51(3): 666–672.
PMCID:
PMC1682702
SummaryPage BrowsePDF–1.2M
13.
A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency
Deep Hathi, Soumik Goswami, Nilanjan Sengupta, Arjun Baidya
Cureus. 2022 Feb; 14(2): e22059. Published online 2022 Feb 9. doi: 10.7759/cureus.22059
PMCID:
PMC8916689
AbstractArticlePDF–1.0M
14.
Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature
Pankaj Singhania, Debasish Dash, Abhranil Dhar, Pritam Biswas, Piyas Gargari, Rana Bhattacharjee, Subhankar Chowdhury, Dipanjana Datta, Emili Banerjee
Bone Rep. 2022 Dec; 17: 101642. Published online 2022 Nov 23. doi: 10.1016/j.bonr.2022.101642
PMCID:
PMC9732115
AbstractArticlePDF–3.6M
15.
Does increased aromatase activity in adipose fibroblasts cause low sexual desire in patients with HIV lipodystrophy?
D Goldmeier, G Scullard, M Kapembwa, H Lamba, G Frize
Sex Transm Infect. 2002 Feb; 78(1): 64–66. doi: 10.1136/sti.78.1.64
PMCID:
PMC1763708
SummaryPDF–77K
16.
A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans
Sema Akçurin, Doğa Türkkahraman, Woo-Young Kim, Erdem Durmaz, Jae-Gook Shin, Su-Jun Lee
J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 205–210. Published online 2016 Jun 6. doi: 10.4274/jcrpe.2761
PMCID:
PMC5096477
AbstractArticlePDF–173K
17.
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development
Zehra Yavas Abalı, Tulay Guran
Front Endocrinol (Lausanne) 2024; 15: 1354759. Published online 2024 May 15. doi: 10.3389/fendo.2024.1354759
PMCID:
PMC11134272
AbstractArticlePDF–1.3M
18.
GPR30 Deficiency Causes Increased Bone Mass, Mineralization, and Growth Plate Proliferative Activity in Male Mice
Jeffery Ford, Asghar Hajibeigi, Michael Long, Lisa Hahner, Crystal Gore, Jer-Tseng Hsieh, Deborah Clegg, Joseph Zerwekh, Orhan K Öz
J Bone Miner Res. 2011 Feb; 26(2): 298–307. Published online 2010 Aug 23. doi: 10.1002/jbmr.209
PMCID:
PMC3179349
AbstractArticlePDF–11M
19.
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans
Lin Lin, Oya Ercan, Jamal Raza, Christine P. Burren, Sarah M. Creighton, Richard J. Auchus, Mehul T. Dattani, John C. Achermann
J Clin Endocrinol Metab. Author manuscript; available in PMC 2007 Aug 29.
Published in final edited form as: J Clin Endocrinol Metab. 2007 Mar; 92(3): 982–990. Published online 2006 Dec 12. doi: 10.1210/jc.2006-1181
PMCID:
PMC1955738
AbstractArticlePDF–1.4M
20.
AROMATASE DEFICIENCY
Serdar E. Bulun
Fertil Steril. Author manuscript; available in PMC 2015 Feb 1.
Published in final edited form as: Fertil Steril. 2014 Feb; 101(2): 323–329. doi: 10.1016/j.fertnstert.2013.12.022
PMCID:
PMC3939057
AbstractArticlePDF–91K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center