Cargando…

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review

Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in steroidogenesis and lipid droplet accumulation in steroidogenic cells. Patients with 46,XY and classic LCAH will typically present with female-type external genitalia. However, those with non...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ishii, Tomohiro, Hori, Naoaki, Amano, Naoko, Aya, Misaki, Shibata, Hirotaka, Katsumata, Noriyuki, Hasegawa, Tomonobu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608554/ https://www.ncbi.nlm.nih.gov/pubmed/31286101 http://dx.doi.org/10.1210/js.2019-00086

Ejemplares similares

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

Congenital lipoid adrenal hyperplasia
por: Kim, Chan Jong
Publicado: (2014)

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia
por: Roberts, Erica C, et al.
Publicado: (2021)

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

Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
por: Cuhaci, Neslihan, et al.
Publicado: (2015)

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)

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome
por: Mishra, Vineet V., et al.
Publicado: (2015)

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)

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)

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)

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)

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

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
por: Hannah-Shmouni, Fady, et al.
Publicado: (2017)

Premature pubarche in an infant: nonclassical congenital adrenal hyperplasia or mini-puberty variant?
por: Grob, Francisca, et al.
Publicado: (2017)

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

Screening for Nonclassic Congenital Adrenal Hyperplasia in the Era of Liquid Chromatography-Tandem Mass Spectrometry
por: Chesover, Alexander D, et al.
Publicado: (2019)

Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess
por: Ng, Jennifer L, et al.
Publicado: (2023)

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

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

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

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

Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
por: Binay, Cigdem, et al.
Publicado: (2014)

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

Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia
por: Papatya Çakır, Esra Deniz, et al.
Publicado: (2012)

Testicular adrenal rest tumors in children with congenital adrenal hyperplasia
por: Al-Ghamdi, Waad M., et al.
Publicado: (2021)

Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dörr, Helmuth-Günther, et al.
Publicado: (2020)

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)

Testicular Adrenal Rest Tumors in a Patient With Congenital Adrenal Hyperplasia
por: Yu, Su-Yuan, et al.
Publicado: (2022)

Testicular adrenal rest tumours in an adult patient with congenital adrenal hyperplasia
por: Forster, Danielle Andrea, et al.
Publicado: (2022)

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche
por: Kolahdouz, Mahsa, et al.
Publicado: (2016)

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia
por: Flück, Christa E., et al.
Publicado: (2011)

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)

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia
por: Jin, Hye Young, et al.
Publicado: (2011)

Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia
por: Yu, Min Kyung, et al.
Publicado: (2015)

Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia
por: Rajkanna, J, et al.
Publicado: (2015)

Testicular Adrenal Rests Tumors and Testicular Microlithiasis in a Brazilian Case Series with Classic Congenital Adrenal Hyperplasia
por: Ohana Marques Coelho de Carvalho, Laura, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_t6mqi9sg76h4rp1d4f1kq6b0sn