Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review

BackgroundLipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). Non-classic LCAH is defined as late-onset glucocorticoid deficiency and even complete male external genitalia in 46,XY individuals. H...

Full description

Bibliographic Details
Main Authors:	Wenli Lu, Tingting Zhang, Lidan Zhang, Xueqing Wang, Sheng Lv, Junqi Wang, Lei Ye, Yuan Xiao, Zhiya Dong, Wei Wang, Shuoyue Sun, Chuanyin Li, Ronggui Hu, Guang Ning, Xiaoyu Ma
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-11-01
Series:	Frontiers in Endocrinology
Subjects:	lipoid congenital adrenal hyperplasia non-classic LCAH steroidogenic acute regulatory protein enzymatic activity phenotype and genotype
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2022.947762/full

Similar Items

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia
by: Jie Liu, et al.
Published: (2023-01-01)

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia
by: Hye Won Park, et al.
Published: (2013-03-01)

Congenital lipoid adrenal hyperplasia
by: Chan Jong Kim
Published: (2014-12-01)

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation
by: Xiu Zhao, et al.
Published: (2018-11-01)

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia
by: Efstathios Katharopoulos, et al.
Published: (2020-08-01)

A case of congenital lipoid adrenal hyperplasia
by: Mahin Hashemipour, et al.
Published: (2012-01-01)

Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
by: Hosun Bae, et al.
Published: (2020-03-01)

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency
by: Carla Bizzarri, et al.
Published: (2017-06-01)

Lipoid Congenital Adrenal Hyperplasia with Cholestatic Jaundice
by: A Homaei, et al.
Published: (2021-03-01)

Congenital lipoid adrenal hyperplasia: Immunohistochemical study of testosterone synthesis in Leydig cells
by: Kanako Matsuoka, et al.
Published: (2020-03-01)

A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report
by: Vera Splittstösser, et al.
Published: (2019-10-01)

Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia
by: Wen-Hsuan Tsai, et al.
Published: (2020-09-01)

A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia
by: Tarun Varma, et al.
Published: (2013-01-01)

Adrenal hyperplasias in childhood: An update
by: Georgia Pitsava, et al.
Published: (2022-08-01)

Non-classical congenital adrenal hyperplasia. Clinical case
by: P.M. Liashuk, et al.
Published: (2023-03-01)

Testicular adrenal rest cells in congenital adrenal hyperplasia
by: Adnan Haider, MD, et al.
Published: (2021-12-01)

Models of Congenital Adrenal Hyperplasia for Gene Therapies Testing
by: Olga Glazova, et al.
Published: (2023-03-01)

Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program
by: Thomas Uslar, et al.
Published: (2023-04-01)

Lipoid proteinosis
by: Mukhija Pooja, et al.
Published: (2006-01-01)

Landscape of Adrenal Tumours in Patients with Congenital Adrenal Hyperplasia
by: Mara Carsote, et al.
Published: (2023-11-01)

Metabolic Perspectives for Non-classical Congenital Adrenal Hyperplasia With Relation to the Classical Form of the Disease
by: Djuro Macut, et al.
Published: (2019-10-01)

The Role of gsp Mutations on the Development of Adrenal Cortical Tumors and Adrenal Hyperplasias
by: Maria Candida Barisson Villares Fragoso, et al.
Published: (2016-07-01)

Treatment patterns and unmet needs in adults with classic congenital adrenal hyperplasia: A modified Delphi consensus study
by: Richard J. Auchus, et al.
Published: (2022-11-01)

Klitoroplastika in congenital adrenal hyperplasia
by: V. V. Mikhaylichenko, et al.
Published: (2014-11-01)

Klitoroplastika in congenital adrenal hyperplasia
by: V. V. Mikhaylichenko, et al.
Published: (2014-11-01)

Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia
by: Lia Mesquita Lousada, et al.
Published: (2021-07-01)

Macronodular adrenal hyperplasia masquerading as an upper pole renal mass
by: Jeunice Owens-Walton, et al.
Published: (2021-07-01)

A rare case of lipoid pneumonia mimicking lung malignancy on radiological imaging: A case report
by: Chi Sum Yuen, et al.
Published: (2023-11-01)

A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management
by: Rafał Podgórski, et al.
Published: (2023-12-01)

Editorial: Non-classic congenital adrenal hyperplasia caused with common and rare forms: Unresolved issues and implications on clinical management
by: Yu Li, et al.
Published: (2023-02-01)

Depression and Anxiety in Children with Congenital Adrenal Hyperplasia
by: Samah Ahmed Hassanein, et al.
Published: (2022-07-01)

Prevalence of nephrocalcinosis in children with congenital adrenal hyperplasia
by: Yahya Madihi, et al.
Published: (2022-01-01)

Congenital adrenal hyperplasia
by: Miolski Jelena, et al.
Published: (2021-01-01)

Bilateral Adrenal Hyperplasia: Pathogenesis and Treatment
by: Benjamin Chevalier, et al.
Published: (2021-10-01)

Suspicious adrenal incidentaloma in a patient with Congenital Adrenal Hyperplasia: A case report
by: Nour Khalil, et al.
Published: (2021-05-01)

Lipoid Proteinosis; A Case Report with Difficult Intubation
by: Syed Aftab Haider, et al.
Published: (2018-01-01)

Bilateral giant adrenal myelolipoma associated with congenital adrenal hyperplasia
by: Isabela Milagres Guimarães, et al.
Published: (2023-12-01)

Adrenal glands of Spix's yellow-toothed cavy (Galea spixii, Wagler, 1831): morphological and morphometric aspects
by: A. C. Santos, et al.

Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review
by: Li Ma, et al.
Published: (2019-11-01)

A Gigantic Uterine Leiomyoma and Big Bilateral Adrenal Myelolipomas as a Result of Untreated Congenital Adrenal Hyperplasia
by: Betty La, MD, et al.
Published: (2021-11-01)