Results 41 to 50 of about 38,744 (248)

Adult congenital adrenal hyperplasia [PDF]

Postgraduate Medical Journal, 1966
CONGENITAL adrenal hyperplasia is a rare disease of adults. Probably the oldest recorded case in the literature is of a 57-year-old woman (Logan and McMillan, 1964) who presented as an abdominal emergency. Most of the published reports and standard references are concerned with the biochemical data and there is little suggestion of a characteristic ...
F, Carswell, R W, Logan, A, Allison
openaire   +2 more sources

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

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

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark, Clark, Tsigos, Cooray, Metherell, Génin, Fujieda, Stocco, Bhangoo, Qiu, Chen, Nakae, Korsch, Flück, Bose, Fujieda, Okuyama, Baker, O'Riordan, Miller, Miller, Aya, Lin, Lin   +38 more
core   +1 more source

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

Adrenal Crisis [PDF]

, 2019
Glucocorticoid replacement therapy, available since the 1950s, has prolonged the survival of patients with adrenal insufficiency. However, adrenal crises, which are life-threatening medical emergencies, still develop in many affected patients.
Falhammar, Henrik, Rushworth, R Louise, Torpy, David J   +2 more
core   +1 more source

Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia [PDF]

Endocrinology and Metabolism Clinics of North America, 2015
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis from cholesterol, under the stimulation of ACTH and other regulators. The syntheses of mineralocorticoids (primarily aldosterone), glucocorticoids (primarily cortisol), and adrenal androgens (primarily dehydroepiandrosterone and its sulfate) occur in separate adrenal cortical ...
Adina F, Turcu, Richard J, Auchus
openaire   +2 more sources