Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

被引:0
|
作者
Carla Bizzarri
Elisa Pisaneschi
Mafalda Mucciolo
Stefania Pedicelli
Daniela Galeazzi
Antonio Novelli
Marco Cappa
机构
[1] Unit of Endocrinology and Diabetes,
[2] “Bambino Gesù” Children’s Hospital,undefined
[3] IRCCS,undefined
[4] Medical Genetics Laboratory,undefined
[5] “Bambino Gesù” Children’s Hospital,undefined
[6] IRCCS,undefined
[7] Pediatric Department,undefined
[8] Azienda Unità Sanitaria Locale Umbria 2,undefined
关键词
Congenital adrenal hyperplasia; Steroidogenic acute regulatory protein; Adrenal insufficiency; infant;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 50 条
  • [21] A RARE CAUSE OF CONGENITAL ADRENAL HYPERPLASIA: CONGENITAL LIPOID ADRENAL HYPERPLASIA
    Gurbuz, Fatih
    Turan, Ihsan
    Topaloglu, Ali K.
    Yuksel, Bilgin
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 566 - 566
  • [22] Congenital Lipoid Adrenal Hyperplasia Due to a Heterozygous De Novo Mutation in StAR (Steroidogenic Acute Regulatory Protein) Gene Presenting with Ambiguous Genitalia in a 46, XY Patient.
    Guercio, G.
    Costanzo, M.
    Baquedano, M. S.
    Berensztein, E.
    Bailez, M.
    Vaiani, E.
    Saraco, N.
    Marino, R.
    Rivarola, M. A.
    Belgorosky, A.
    ENDOCRINE REVIEWS, 2010, 31 (03)
  • [23] The Novel Mutation p.Trp147Arg of the Steroidogenic Acute Regulatory Protein Causes Classic Lipoid Congenital Adrenal Hyperplasia with Adrenal Insufficiency and 46,XY Disorder of Sex Development
    Yuksel, Bilgin
    Kulle, Alexandra E.
    Gurbuz, Fatih
    Welzel, Maik
    Kotan, Damla
    Mengen, Eda
    Holterhus, Paul-Martin
    Topaloglu, Ali Kemal
    Groetzinger, Joachim
    Riepe, Felix G.
    HORMONE RESEARCH IN PAEDIATRICS, 2013, 80 (03): : 163 - 169
  • [24] Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene
    Nakarai, T
    Saikawa, Y
    Niida, Y
    Kanegane, C
    Honke, K
    Koizumi, S
    PEDIATRICS INTERNATIONAL, 1999, 41 (06) : 682 - 684
  • [25] A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of swiss ancestry with congenital lipoid adrenal hyperplasia
    Flück, CE
    Maret, A
    Mallet, D
    Portrat-Doyen, S
    Achermann, JC
    Leheup, B
    Theintz, GE
    Mullis, PE
    Morel, Y
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (09): : 5304 - 5308
  • [26] Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
    Flueck, Christa E.
    Pandey, Amit V.
    Dick, Bernhard
    Camats, Nuria
    Fernandez-Cancio, Monica
    Clemente, Maria
    Gussinye, Miquel
    Carrascosa, Antonio
    Mullis, Primus E.
    Audi, Laura
    PLOS ONE, 2011, 6 (05):
  • [27] Phenotypical characteristics of four patients originated from Maghreb with lipoid congenital adrenal hyperplasia (CAH) due to mutation in steroidogenic acute regulatory protein
    Devernay-Lefort, Marie
    Leger, Juliane
    Raymund, Rachel
    Bouvattier, Claire
    Morel, Yves
    Forest, Maguelone
    Nicolino, Marc
    Delphine, Mallet
    HORMONE RESEARCH, 2008, 70 : 192 - 192
  • [28] Congenital lipoid adrenal hyperplasia in a Saudi infant
    Subki, Siham Hussein
    Wadea Mohammed Hussain, Raghad
    Al-Agha, Abdulmoein Eid
    ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2022, 2022
  • [29] Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein
    Bose, HS
    Pescovitz, OH
    Miller, WL
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1997, 82 (05): : 1511 - 1515
  • [30] Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
    Katharopoulos, Efstathios
    Di Iorgi, Natascia
    Fernandez-Alvarez, Paula
    Pandey, Amit, V
    Groessl, Michael
    Dubey, Shraddha
    Camats, Nuria
    Napoli, Flavia
    Patti, Giuseppa
    Lezzi, Marilea
    Maghnie, Mohamad
    Fluck, Christa E.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2020, 21 (17) : 1 - 14