Results 51 to 60 of about 32,144 (200)

Congenital adrenal hyperplasia in men: classical form. Clinical case

Mìžnarodnij Endokrinologìčnij Žurnal, 2021
Recently, in the foreign scientific literature there have been reports that boys and young men with the classic virile form of congenital adrenal hyperplasia or congenital dysfunction of the adrenal cortex as a result of inadequate glucocorticoid therapy
P.M. Liashuk, N.I. Stankova, R.P. Liashuk   +2 more
doaj   +1 more source

Growth Pattern of Untreated Boys with Simple Virilizing Congenital Adrenal Hyperplasia Indicates Relative Androgen Insensitivity during the First Six Months of Life [PDF]

, 2010
Context: Mild forms of simple virilizing congenital adrenal hyperplasia (CAH) may be missed in newborn screening. In the pre-newborn-screening era, missed diagnosis of simple virilizing CAH was not infrequent in boys.
Bonfig, W., Schwarz, H. P.
core   +1 more source

CONGENITAL ADRENAL CORTEX HYPERPLASIA IN A NEWBORN (CLINICAL CASE)

Неонатологія, хірургія та перинатальна медицина, 2019
Congenital adrenal cortex hyperplasia combines a group of monogenic diseases with an autosomal recessive fashion based on defects in enzymes or transport proteins involved in adrenal steroidogenesis.
N.M. Kretsu, L.V Kolyubakina, T.N. Kretsu, L.F. Balytska   +3 more
doaj   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Functional consequences of seven novel mutations in the CYP11B1 Gene: four mutations associated with nonclassic and three mutations causing classic 11 -Hydroxylase Deficiency [PDF]

, 2010
Context: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Cases of nonclassic 11OHD are rare compared with the incidence of nonclassic 21-hydroxylase deficiency.
Araujo-Vilar, D., Arlt, Wiebke, Castro-Feijoo, L., Cole, T. R., Conway, G. S., Dhir, V., Dominguez, F., Hampel, R., Kaminsky, E., Kirk, J. M., Krone, Nils, Loidi, L., Parajes, S., Pombo, M., Quinkler, M., Reisch, N., Rose, I. T., Rumsby, G., Williams, E. L.   +18 more
core   +2 more sources

Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation

Jornal de Pediatria, 2019
Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases.
Cristiane Kopacek, Mayara J. Prado, Claudia M.D. da Silva, Simone M. de Castro, Luciana A. Beltrão, Paula R. Vargas, Tarciana Grandi, Maria L.R. Rossetti, Poli Mara Spritzer   +8 more
doaj   +3 more sources

Therapeutic role of nifedipine in threatened preterm labor: Current evidence and future perspectives

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Preterm birth occurs in approximately 10% of all pregnancies, and is not only the leading cause of neonatal mortality but also a major contributor to short‐ and long‐term morbidities due to immaturity. Preterm birth has also been linked to an increased risk of maternal cardiovascular and cerebrovascular diseases, making it a critical concern ...
Hikaru Imatake, Yoshitsugu Chigusa, Haruta Mogami, Satoshi Morita, Masaki Mandai   +4 more
wiley   +1 more source

Evaluation of Potential Hormonal Activities of Ashwagandha (Withania somnifera)

Phytotherapy Research, EarlyView.
ABSTRACT Ashwagandha is a widely used herb in traditional medicine systems, particularly Ayurveda. Despite its extensive tradition, growing concerns regarding its potential endocrinological effects have prompted scientific scrutiny. This review systematically evaluates the current preclinical, clinical, and case study evidence concerning AS's effects ...
Günter Vollmer, Thomas Brendler
wiley   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

How often are clinicians performing genital exams in children with disorders of sex development? [PDF]

, 2017
Background: We sought to determine the frequency with which genital exams (GEs) are performed in children with disorders of sex development (DSD) and ambiguous genitalia (AG) during routine visits to the pediatric endocrine clinic.
Eugster, Erica A., Tica, Stefani S.
core   +1 more source