Results 61 to 70 of about 29,100 (161)

Case report: Coexistence of Jacobs syndrome, congenital adrenal hyperplasia, and ambiguous genitalia in a male infant

Clinical Case Reports, 2023
Key Clinical Message Jacobs syndrome and congenital adrenal hyperplasia are separate entities but share common clinical features such as ambiguous genitalia.
Qaisar Ali Khan, Faiza Amatul‐Hadi, Amritpal Kooner, Amber Lee, Rahma Ahmed, Adithya Nadella, Harshawardhan Pande, Yaxel Levin‐Carrion, Muhammad Afzal, Moses Alfaro   +9 more
doaj   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Genomic technologies and the diagnosis of 46, XY differences of sex development

Andrology, Volume 13, Issue 5, Page 1025-1043, July 2025.
Abstract Differences/disorders of sex development can be caused by disruptions to the molecular and cellular mechanisms that control development and sex determination of the reproductive organs with 1:100 live births affected. Multiple genes are associated with 46, XY differences/disorders of sex development that can cause varying clinical phenotypes ...
Firman Idris, Andrew H. Sinclair, Katie L. Ayers   +2 more
wiley   +1 more source

Slipped capital femoral epiphysis in an adolescent with congenital adrenal hyperplasia: A case report

Clinical Case Reports
Key Clinical Message In previous reports, hypothyroidism, hypopituitrism, and hypogonadism were common endocrine causes of SCFE, but this is the first time that congenital adrenal hyperplasia has been observed.
Yi‐Fan Huang, Jin‐Han Qiao, Jia Zheng   +2 more
doaj   +1 more source

DEVELOPMENT OF POLYCYSTIC OVARY SYNDROME IN A PATIENT SUFFERING FROM CLASSIC CONGENITAL ADRENAL CORTICAL HYPERPLASIA

Кубанский научный медицинский вестник, 2017
Aim. To demostrate the complexity of the diagnosis and the consequences of the effect of insufficient hormone replacement therapy on the prognosis of the patient with the viril form of congenital adrenal cortical hyperplasia. Materials and methods.
L. A. IVANOV, I. V. KOROL, YU. S. KOVALENKO, E. A. KOKOVA, A. V. MEZINOVA, Y. A. LIPNICKAYA   +5 more
doaj   +1 more source

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]

, 2017
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F., Bryce, J., Jiang, J., Kourime, M., Nixon, R., Rodie, M.   +5 more
core   +1 more source

Remission during pregnancy of severe Chronic Hypertension due to 11-ß Hydroxylase Deficiency [PDF]

, 2004
When hypertension is a result of an underlying identifiable abnormality, the latter's early discovery can lead to a timely cure of the hypertension and the prevention of its complications.
Attard, Gerhardt, Cachia, Mario J.
core  

Revolution of AAV in Drug Discovery: From Delivery System to Clinical Application

Journal of Medical Virology, Volume 97, Issue 6, June 2025.
ABSTRACT Adeno‐associated virus (AAV) is a non‐enveloped DNA virus infecting a wide variety of species, tissues, and cell types, which is recognized as a safe and effective method for delivering therapeutic transgenes. AAV vector is the most popular viral gene delivery system in clinical delivery systems with unique and multiple advantages, such as ...
Ling Yin, Hongliang He, Hongliang Zhang, Yuhua Shang, Chengbo Fu, Songquan Wu, Tengchuan Jin   +6 more
wiley   +1 more source

Intradialytic hypertriglyceridemia can be associated with priapism: A case report of congenital adrenal hyperplasia with kidney failure

Український Журнал Нефрології та Діалізу
Data on kidney failure in patients with congenital adrenal hyperplasia are rare. To the best of our knowledge, there is no data on how to manage patients with congenital adrenal hyperplasia during hemodialysis sessions.
Nabadwip Pathak, Sunil Kumar Nanada, Moses Ambriose   +2 more
doaj   +1 more source

Klitoroplastika in congenital adrenal hyperplasia

Андрология и генитальная хирургия, 2014
Given observation successful klitoroplastika by the original method in a patient with congenital adrenal hyperplasia and klitoromegalia.
V. V. Mikhaylichenko, V. N. Fesenko, A. I. Novikov, O. A. Murtazaaliev   +3 more
doaj   +3 more sources