Cargando…

Congenital lipoid adrenal hyperplasia

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present wit...

Descripción completa

Detalles Bibliográficos
Autor principal:	Kim, Chan Jong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society of Pediatric Endocrinology 2014
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316413/ https://www.ncbi.nlm.nih.gov/pubmed/25654062 http://dx.doi.org/10.6065/apem.2014.19.4.179

Ejemplares similares

A Case of Congenital Lipoid Adrenal Hyperplasia
por: Hashemipour, Mahin, et al.
Publicado: (2012)

Congenital lipoid adrenal hyperplasia in twin sisters
por: Park, Hye Won, et al.
Publicado: (2013)

Congenital lipoid adrenal hyperplasia in a Saudi infant
por: Subki, Siham Hussein, et al.
Publicado: (2022)

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
por: Khodadad, Ahmad, et al.
Publicado: (2011)

Congenital lipoid adrenal hyperplasia with Graves' disease: A case report
por: Wang, Yan-Jun, et al.
Publicado: (2022)

Clinical and mutational spectrum of patients with congenital lipoid adrenal hyperplasia in Southeast Asia
por: Ariyawatkul, Kansuda, et al.
Publicado: (2015)

Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient
por: Kaur, Jasmeet, et al.
Publicado: (2016)

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells
por: Matsuoka, Kanako, et al.
Publicado: (2020)

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation
por: Bakkar, Ayman A, et al.
Publicado: (2023)

Prenatal Diagnosis of Congenital Lipoid Adrenal Hyperplasia (CLAH) by Molecular Genetic Testing in Korean Siblings
por: Ko, Hyun Sun, et al.
Publicado: (2011)

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
por: Park, Hye Won, et al.
Publicado: (2013)

Abstract 97: Lipoid congenital adrenal hyperplasia in a boy with primary adrenal insufficiency with normal male external genitalia
por: Nishchitha, K
Publicado: (2022)

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review
por: Ishii, Tomohiro, et al.
Publicado: (2019)

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review
por: Lu, Wenli, et al.
Publicado: (2022)

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
por: Bizzarri, Carla, et al.
Publicado: (2017)

Congenital adrenal hyperplasia
por: Dessinioti, Cleo, et al.
Publicado: (2009)

Congenital Adrenal Hyperplasia
por: Speiser, Phyllis W.
Publicado: (2015)

Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
por: Vasudevan, Lakshmi, et al.
Publicado: (2013)

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency
por: Higa, Moritake, et al.
Publicado: (2021)

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
por: Katharopoulos, Efstathios, et al.
Publicado: (2020)

A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia
por: Fu, Rong, et al.
Publicado: (2017)

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia
por: Finn, Erin, et al.
Publicado: (2021)

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia
por: Liu, Jie, et al.
Publicado: (2023)

Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
por: Bae, Hosun, et al.
Publicado: (2020)

STAR mutations causing non-classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency
por: Luo, Yuanyuan, et al.
Publicado: (2020)

A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
por: Ishizu, Katsura, et al.
Publicado: (2008)

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation
por: Zhao, Xiu, et al.
Publicado: (2018)

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
por: Carsote, Mara, et al.
Publicado: (2023)

Testicular Adrenal Rest Tumours in Congenital Adrenal Hyperplasia
por: Claahsen-van der Grinten, H. L., et al.
Publicado: (2009)

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia
por: Lousada, Lia Mesquita, et al.
Publicado: (2021)

Management of the Adult with Congenital Adrenal Hyperplasia
por: Auchus, Richard J.
Publicado: (2010)

Congenital adrenal hyperplasia: Treatment and outcomes
por: Kamoun, Mahdi, et al.
Publicado: (2013)

Non-Classical Congenital Adrenal Hyperplasia in Childhood
por: Kurtoğlu, Selim, et al.
Publicado: (2017)

Emerging medical therapies for congenital adrenal hyperplasia
por: Speiser, Phyllis W.
Publicado: (2019)

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia
por: Prete, Alessandro, et al.
Publicado: (2021)

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia
por: Cera, Gianluca, et al.
Publicado: (2022)

Feminizing genital reconstruction in congenital adrenal hyperplasia
por: Leslie, Jeffrey A., et al.
Publicado: (2009)

Mineralocorticoid Deficiency and Treatment in Congenital Adrenal Hyperplasia
por: Padidela, Raja, et al.
Publicado: (2010)

Growth and Reproductive Outcomes in Congenital Adrenal Hyperplasia
por: Nebesio, Todd D., et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_loasr88q5v6s25nq053a5isd3m