Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

被引：0
|
作者：
Tiantian Cheng
Jing Liu
Wenwen Sun
Guangyao Song
Huijuan Ma
机构：
[1] North China University of Science and Technology,Department of Internal Medicine, School of Clinical Medicine
[2] Hebei General Hospital,Department of Endocrinology and Metabolic Diseases
[3] Hebei General Hospital,Hebei Key Laboratory of Metabolic Diseases
来源：
BMC Endocrine Disorders | / 22卷
关键词：
Congenital adrenal hyperplasia (CAH), Steroid 21-hydroxylase deficiency;p.I173N,c.1451-1452delGGinsC, Case report;
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
  • [1] Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
    Cheng, Tiantian
    Liu, Jing
    Sun, Wenwen
    Song, Guangyao
    Ma, Huijuan
    BMC ENDOCRINE DISORDERS, 2022, 22 (01)
  • [2] Adrenal hyperplasia and congenital glaucoma in a family: Report of a rare case
    Al-Zahrani, AJ
    ANNALS OF SAUDI MEDICINE, 2002, 22 (3-4) : 219 - 220
  • [3] ADRENAL INCIDENTALOMA AND PATIENTS WITH HOMOZYGOUS OR HETEROZYGOUS CONGENITAL ADRENAL-HYPERPLASIA
    JARESCH, S
    KORNELY, E
    KLEY, HK
    SCHLAGHECKE, R
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1992, 74 (03): : 685 - 689
  • [4] Heterozygous POR gene mutations in a patient with congenital adrenal hyperplasia
    Gusmano, Carmelo
    Calogero, Aldo E.
    Cannarella, Rossella
    ENDOCRINE, 2022, 77 (02) : 401 - 402
  • [5] Heterozygous POR gene mutations in a patient with congenital adrenal hyperplasia
    Carmelo Gusmano
    Aldo E. Calogero
    Rossella Cannarella
    Endocrine, 2022, 77 : 401 - 402
  • [6] Congenital adrenal hyperplasia - a case report
    Noczynska, Anna
    Zubkiewicz-Kucharska, Agnieszka
    Kik, Eugenia
    FAMILY MEDICINE AND PRIMARY CARE REVIEW, 2012, 14 (04): : 623 - 627
  • [7] A Rare Case of Congenital Adrenal Hyperplasia with Giant Adrenal Myelolipoma
    Longoria-Dubocq, Texell
    Torres-Aguiar, Roberto
    Ruiz-Vega, Karla
    De Ayala-Hillmann, Rafael
    Lopez-Enriquez, Reynold
    PUERTO RICO HEALTH SCIENCES JOURNAL, 2020, 39 (02) : 226 - 228
  • [8] Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report
    Yadav, Raj K.
    Ariga, Kishore K.
    Subbiah, Arunkumar
    Bagchi, Soumita
    Mahajan, Sandeep
    Bhowmik, Dipankar
    Agarwal, Sanjay K.
    INDIAN JOURNAL OF NEPHROLOGY, 2019, 29 (04) : 295 - 297
  • [9] Thrombocytosis as a Rare Manifestation in Salt Wasting Congenital Adrenal Hyperplasia: A Case Report
    Novina, Novina
    Aprimadhansari, Aprimadhansari
    Nurfandi, Wendi
    Sunhaya, Ratna
    Saraswati, Citra
    Trisaputra, Jessica Oktavianus
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 441 - 441
  • [10] 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
12345