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Select item 109300141.

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

Article PDF–1014K

Select item 97321152.

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

Article PDF–3.6M

Select item 89166893.

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

Article PDF–1.0M

Select item 71278844.

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

Article PDF–430K

Select item 70017105.

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

Article PDF–1020K

Select item 69777396.

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

Article PDF–2.1M

Select item 65715297.

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

Article PDF–439K

Select item 62803278.

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

Article PDF–448K

Select item 44573869.

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

Article PDF–824K

Select item 400491510.

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

Article PDF–233K

Select item 393693911.

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

Article PDF–2.5M

Select item 370192012.

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

Article PDF–73K

Select item 168270213.

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

Summary Page Browse PDF–1.2M

Select item 4804614.

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

Summary Page Browse PDF–1.4M

Select item 176370815.

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

Summary PDF–77K

Select item 676979316.

46,XX DSD Due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features

Federico Baronio, Rita Ortolano, Soara Menabò, Alessandra Cassio, Lilia Baldazzi, Valeria Di Natale, Giacomo Tonti, Benedetta Vestrucci, Antonio Balsamo

Int J Mol Sci. 2019 Sep; 20(18): 4605. Published online 2019 Sep 17. doi: 10.3390/ijms20184605