Research & Literature

Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.

Burckhardt MA, Obmann V, Wolf R, et al.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2015; (31(5)):349-54 doi:10.3109/09513590.2014.995619.

Disorders of Sex Development (DSD): Networking and Standardization Considerations.

Sandberg DE, Callens N, Wisniewski AB

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015; (47(5)):387-93 doi:10.1055/s-0035-1548936.

QM/MM modeling of the hydroxylation of the androstenedione substrate catalyzed by cytochrome P450 aromatase (CYP19A1).

Viciano I, Castillo R, Martí S

Journal of computational chemistry 2015; (36(23)):1736-47 doi:10.1002/jcc.23967.

An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues.

Saraco N, Nesi-Franca S, Sainz R, et al.

Hormone research in paediatrics 2015; (84(4)):275-82 doi:10.1159/000437142.

A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans.

Akçurin S, Türkkahraman D, Kim WY, et al.

Journal of clinical research in pediatric endocrinology 2016; (8(2)):205-10 doi:10.4274/jcrpe.2761.

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, et al.

Molecular and cellular endocrinology 2016; (433()):66-74.

Aromatase deficiency in a male patient - Case report and review of the literature.

Miedlich SU, Karamooz N, Hammes SR

Bone 2016; (93()):181-186 doi:10.1016/j.bone.2016.09.024.

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

Bonamichi BD, Santiago SL, Bertola DR, et al.

Archives of endocrinology and metabolism 2016; (60(5)):500-504 doi:10.1590/2359-3997000000213.

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Kyriakou A, Dessens A, Bryce J, et al.

Orphanet journal of rare diseases 2016; (11(1)):155 doi:10.1186/s13023-016-0534-8.

Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.

Kulle A, Krone N, Holterhus PM, et al.

European journal of endocrinology 2017; (176(5)):P1-P9.

TRANSFER FROM PEDIATRIC TO ADULT ENDOCRINOLOGY.

Jones MR, Robbins BW, Augustine M, et al.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017; (23(7)):822-830 doi:10.4158/EP171753.OR.

Disorders of sex development (DSD): Clinical service delivery in the United States.

Rolston AM, Gardner M, van Leeuwen K, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(2)):268-278 doi:10.1002/ajmg.c.31558.

Aromatase Deficiency due to a Homozygous CYP19A1 Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.

Mazen I, McElreavey K, Elaidy A, et al.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2017; (11(5-6)):275-279 doi:10.1159/000485278.

Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene

Unal E, Yıldırım R, Taş FF, et al.

Journal of clinical research in pediatric endocrinology 2018; (10(4)):377-381 doi:10.4274/jcrpe.0011.

A Novel Homozygous CYP19A1 Gene Mutation: Aromatase Deficiency Mimicking Congenital Adrenal Hyperplasia in an Infant without Obvious Maternal Virilisation

Dursun F, Ceylaner S

Journal of clinical research in pediatric endocrinology 2019; (11(2)):196-201 doi:10.4274/jcrpe.galenos.2018.2018.0140.

Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient.

Costanzo M, Garcia-Feyling J, Saraco N, et al.

Hormone research in paediatrics 2018; (90(4)):275-282 doi:10.1159/000492128.

[Managing the transition from childhood to adulthood in people with chronic disease].

Mellerio H, Jacquin P

La Revue du praticien 2017; (67(4)):425-429.

Congenital adrenal hyperplasia with salt-wasting crisis and arrhythmia: a case study.

Canlas JF, Ponmani C

BMJ case reports 2019; (12(1)) doi:10.1136/bcr-2018-227565.

Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene

Özen S, Atik T, Korkmaz Ö, et al.

Journal of clinical research in pediatric endocrinology 2020; (12(1)):109-112 doi:10.4274/jcrpe.galenos.2019.2018.0198.

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

Baronio F, Ortolano R, Menabò S, et al.

International journal of molecular sciences 2019; (20(18)) doi:10.3390/ijms20184605.

Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency.

Agrawal SS, Chakraborty PP, Sinha A, Maiti A

BMJ case reports 2019; (12(12)) doi:10.1136/bcr-2019-232575.

Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.

Parween S, Fernández-Cancio M, Benito-Sanz S, et al.

The Journal of clinical endocrinology and metabolism 2020; (105(4)) doi:10.1210/clinem/dgaa076.

Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function.

Praveen VP, Ladjouze A, Sauter KS, et al.

Journal of the Endocrine Society 2020; (4(4)):bvaa030 doi:10.1210/jendso/bvaa030.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Lee Y, Choi JH, Oh A, et al.

Annals of pediatric endocrinology & metabolism 2020; (25(2)):97-103 doi:10.6065/apem.1938152.076.

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

Clinical endocrinology 2020; (93(6)):687-695 doi:10.1111/cen.14277.

A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes.

Ata A, Özen S, Onay H, et al.

European journal of medical genetics 2021; (64(3)):104154 doi:10.1016/j.ejmg.2021.104154.

The presentation of congenital adrenal hyperplasia in an unscreened population.

Conlon TA, Hawkes CP, Brady JJ, Murphy NP

Journal of pediatric endocrinology & metabolism : JPEM 2021; (34(9)):1123-1129 doi:10.1515/jpem-2021-0123.

Congenital disorders of estrogen biosynthesis and action.

Fukami M, Ogata T

Best practice & research. Clinical endocrinology & metabolism 2022; (36(1)):101580 doi:10.1016/j.beem.2021.101580.

A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency.

Hathi D, Goswami S, Sengupta N, Baidya A

Cureus 2022; (14(2)):e22059 doi:10.7759/cureus.22059.

Delivery of multidisciplinary care in the field of differences and disorders of sex development (DSD).

Lucas-Herald AK, Scougall K, Ahmed SF

Expert review of endocrinology & metabolism 2022; (17(3)):225-234 doi:10.1080/17446651.2022.2072829.

Aromatase deficiency caused by mutation of CYP19A1 gene: A case report.

Li H, Fu S, Dai R, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(6)):794-800 doi:10.11817/j.issn.1672-7347.2022.210401.

Challenges Waiting for an Adult with DSD.

Nowotny HF, Reisch N

Hormone research in paediatrics 2023; (96(2)):207-221 doi:10.1159/000527433.

Aromatase deficiency in a tall man: Case report of two novel mutations and review of literature.

Singhania P, Dash D, Dhar A, et al.

Bone reports 2022; (17()):101642 doi:10.1016/j.bonr.2022.101642.

Aromatase mutation in men as a rare cause of osteoporosis: a case report and review of the literature.

Stumper NA, Wientgen H, Al-Hashimi L, et al.

Clinical and experimental rheumatology 2023; (41(7)):1434-1442 doi:10.55563/clinexprheumatol/gj7xal.

46,XX aromatase deficiency: A single-center experience with the varied spectrum and recurrent variants, and a systematic review of hormonal parameters.

Yami Channaiah C, Memon SS, Sarathi V, et al.

Annales d'endocrinologie 2024; (85(1)):48-55 doi:10.1016/j.ando.2023.05.010.

Differences of Sex Development: Current Issues and Controversies.

Johnson EK, Whitehead J, Cheng EY

The Urologic clinics of North America 2023; (50(3)):433-446 doi:10.1016/j.ucl.2023.04.010.

Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.

Yavas Abalı Z, Guran T

Frontiers in endocrinology 2024; (15()):1354759 doi:10.3389/fendo.2024.1354759.

Resource use and costs of transitioning from paediatric to adult care for patients with chronic endocrine disease.

Choukair D, Mittnacht J, Treiber D, et al.

Clinical endocrinology 2024; (101(2)):121-129 doi:10.1111/cen.15105.

Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.

Miller WL, Pandey AV, Flück CE

The Journal of clinical endocrinology and metabolism 2025; (110(3)):e574-e582 doi:10.1210/clinem/dgae815.

Bone Disease Associated with Inactivating Aromatase Mutations and its Management.

Cavati G, Merlotti D, Cardamone P, et al.

Calcified tissue international 2025; (116(1)):14 doi:10.1007/s00223-024-01330-0.

Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Yang M, White PC

The Journal of clinical endocrinology and metabolism 2025; (110(Supplement_1)):S1-S12 doi:10.1210/clinem/dgae535.

Aromatase enzyme deficiency in an adult male patient and the effects of estrogen replacement therapy: a rare cause of tall stature.

Imre E, Akçay S, Yavuz DG

Hormones (Athens, Greece) 2025; (24(2)):525-532 doi:10.1007/s42000-025-00640-8.

Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization.

Naseem A, Zahid M, Arshad K, et al.

Case reports in perinatal medicine 2024; (13(1)):20230032 doi:10.1515/crpm-2023-0032.

Ischemic Gangrene Requiring Right Salpingo-Oophorectomy in a Patient With Ovarian Cyst Torsion and a History of Bilateral Ovarian Cysts: A Case Report.

Doshi N, Kanani D, Garber L, et al.

Cureus 2025; (17(5)):e83595 doi:10.7759/cureus.83595.

European Society for Paediatric Endocrinology (ESPE) and European Society of Endocrinology (ESE) joint clinical practice guidance for healthcare transition from paediatric to adult endocrine care.

Le Roux E, Stochholm K, Fassnacht M, et al.

European journal of endocrinology 2026; (194(2)):G1-G10 doi:10.1093/ejendo/lvag020.

Congenital aromatase deficiency in an adult male: A case report of clinical course and symptom reversal with estrogen supplementation.

Coady P, Walia A, Hernandez B, et al.

Urology case reports 2026; (66()):103417 doi:10.1016/j.eucr.2026.103417.

Ultrasonographic whirlpool sign in ovarian torsion with dual mature teratomas: A case report and literature review.

Varra FN, Fasoulopoulos A, Spathi E, et al.

Medicine international 2026; (6(4)):38 doi:10.3892/mi.2026.322.

Late Recognition of Aromatase Deficiency Following 16 Years of Misdiagnosis as Congenital Adrenal Hyperplasia: A Case with Coexisting Gonadoblastoma and Dysgerminoma.

Alfadhli E, Turkistani A

Journal of clinical research in pediatric endocrinology 2026; doi:10.4274/jcrpe.galenos.2026.2026-6-8.

[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].

Ren WQ, Sun XF, Xue Y, et al.

Zhonghua nei ke za zhi 2026; (65(9)):999-1004 doi:10.3760/cma.j.cn112138-20260210-00086.