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

页码：563 / 563

页数：1