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

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

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作者： Chethan,Yami Channaiah ^[1] ; Saba Samad,Memon ^[1] ; Vijaya,Sarathi ^[2] ; Anurag Ranjan,Lila ^[3] ; Rohit,Barnabas ^[1] ; Darpan,Raghav ^[4] ; Vishwambhar V,Bhandare ^[5] ; Sneha,Arya ^[1] ; Hemangini,Thakkar ^[6] ; Virendra Ashokrao,Patil ^[1] ; Manjiri,Karlekar ^[1] ; Ambarish,Kunwar ^[4] ; Tushar,Bandgar ^[1]

作者单位： Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India. ^[1] Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, 560066 Bengaluru, India. ^[2] Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, 400012 Mumbai, India. Electronic address: anuraglila@gmail.com. ^[3] Department of Biosciences and Bioengineering, Indian Institute of Technology Bombay, Powai, Mumbai, India. ^[4] Department of Microbiology, Shivaji University, Kholhapur, India. ^[5] Department of Radiology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India. ^[6]

关键词 46,XX Aromatase deficiency Hormonal parameters Novel mutation Varied presentation

主题词男(雄)性(Male);婴儿(Infant);女(雌)性(Female);青少年(Adolescent);人类(Humans);婴儿, 新生(Infant, Newborn);婴儿, 早产(Infant, Premature);男子乳腺发育(Gynecomastia);雄激素类(Androgens);卵泡刺激素(Follicle Stimulating Hormone);促性腺素类(Gonadotropins);芳香酶(Aromatase);不育, 男(雄)性(Infertility, Male);代谢缺陷, 先天性(Metabolism, Inborn Errors);46,XX性发育障碍(46, XX Disorders of Sex Development)

DOI 10.1016/j.ando.2023.05.010

PMID 37348676

发布时间 2024-02-26

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Annales d'endocrinologie

Annales d'endocrinologie

2024年85卷1期

48-55页

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