StAR gene mutation: Description of puberty development and genital life from 6 patients 46,XX with classic Congenital Lipoid Adrenal Hyperplasia

被引：0
|
作者：
Jardin-Millet, Isabelle [1 ]
Amouroux, Cyril [2 ]
Dufourg, Marie-Noelle [1 ,3 ]
Lambert, Anne-Sophie [4 ]
Bouvattier, Claire [4 ]
Parada-Bonte, Fabienne [5 ]
Reynaud, Rachel [6 ,7 ]
Demeinex, Estelle [8 ]
Courbiere, Blandine [9 ]
Albarel, Frederique [10 ]
Netchine, Irene [11 ,12 ]
Houang, Muriel [11 ,12 ]
机构：
[1] Hop Armand Trousseau, AP HP, Serv Explorat Fonct Endocriniennes, Paris, France
[2] CHU Montpellier, Hop Arnaud de Villeneuve, Pediat Specialisee Endocrinol Diabetol, Montpellier, France
[3] Croissance Foetale & Postnatale St Antoine, Unite Inserm UMR S Systeme IGF 938, Paris, France
[4] Hop Bicetre, APHP Kremlin Bicetre, CRMR Dev Genital, Serv Endocrinol & Diabetol Pediat, Le Kremlin Bicetre, France
[5] Med Generaliste, Montpellier, France
[6] CHU Timone Enfa, AP HM, Serv Pediat Multidisciplinaire, Marseille, France
[7] Aix Marseille Univ, Inst Natl Sante & Rech Med INSERM, Inst Marseille Malad Rares MarMaRa, U1251,Marseille Med Genet MMG,Fac Sci Med & Param, Marseille, France
[8] Ctr Hosp Intercommunal Frejus St Raphael, Frejus, France
[9] AP HM Concept, Dept Gynecol Obstetr & Reprod Med, Gynepole, Marseille, France
[10] Hop Conception, AP HP, Serv Endocrinol, Ctr Reference Malad Rares Hypophyse HYPO, Marseille, France
[11] Hop Armand Trousseau, AP HP, Serv Explorat Fonct Endocriniennes, Paris, France
[12] Croissance Foetale & Postnatale St Antoine, Unite Inserm UMR S Syst IGF 938, Paris, France
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2022年 / 95卷 / SUPPL 2期
关键词：
steroidogenesis; StAR gene; lipoid congenital adrenal hyperplasia; adrenal failure; puberty; ovarian cyst; fertility; medical assistance for the procreation;
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
P2-264
引用
收藏
页码：563 / 563
页数：1
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