Works matching Congenital adrenal hyperplasia

Results: 2894

Некласична вроджена гіперплазія кори надниркових залоз унаслідок дефіциту 21-гідроксилази: лабораторні критерії діагностики й контролю ефективності лікування (частина 2)

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2019, v. 15, n. 6, p. 475, doi. 10.22141/2224-0721.15.6.2019.185410

By:

Рикова, О. В.

Publication type:

Article

Некласична вроджена гіперплазія кори надниркових залоз унаслідок дефіциту 21-гідроксилази: лабораторні критерії діагностики й контролю ефективності лікування

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2019, v. 15, n. 5, p. 396, doi. 10.22141/2224-0721.15.5.2019.180044

By:

Рикова, О. В.

Publication type:

Article

先天性肾上腺皮质增生伴男性不育诊治一例及相关文献复习.

Published in:

Journal of International Reproductive Health/Family Planning, 2019, v. 38, n. 6, p. 486

By:

王丽;
陈勇;
蒋文辉;
田二坡

Publication type:

Article

新生儿先天性肾上腺皮质增生症 17-羟孕酮筛查阳性切值研究.

Published in:

Journal of Kunming Medical University / Kunming Yike Daxue Xuebao, 2025, v. 46, n. 4, p. 109, doi. 10.12259/j.issn.2095-610X.S20250414

By:

王琼;
齐志业;
赵小龙;
段江

Publication type:

Article

The use of liquid chromatography-tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia: improvements and future perspectives.

Published in:

Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1226284

By:

de Hora, Mark;
Heather, Natasha;
Webster, Dianne;
Albert, Benjamin;
Hofman, Paul

Publication type:

Article

Clinical applications of genetic analysis and liquid chromatography tandem-mass spectrometry in rare types of congenital adrenal hyperplasia.

Published in:

BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00901-8

By:

Li, Zhuoguang;
Liang, Yan;
Du, Caiqi;
Yu, Xiao;
Hou, Ling;
Wu, Wei;
Ying, Yanqing;
Luo, Xiaoping

Publication type:

Article

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1096454

By:

Jie Liu;
Hong-Mei Dai;
Gao-Peng Guang;
Wen-Mu Hu;
Ping Jin

Publication type:

Article

不同年龄段先天性肾上腺皮质增生合并外生殖器男性化女童术后并发症与手术效果分析.

Published in:

Journal of Clinical Pediatric Surgery, 2025, v. 24, n. 3, p. 236, doi. 10.3760/cma.j.cn101785-202308044-007

By:

赵士猛;
崔晓薇;
曹延延;
齐灿;
刘丽君;
陈潇潇;
刘颖业;
刘蕾;
周云

Publication type:

Article

Адреногенітальний синдром у чоловіків: класична форма. Клінічний випадок.

Published in:

International Journal of Endocrinology / Mìžnarodnij Endokrinologìčnij Žurnal, 2021, v. 17, n. 4, p. 372, doi. 10.22141/2224-0721.17.4.2021.237353

By:

П. М., Ляшук;
Н. І., Станкова;
Р. П., Ляшук

Publication type:

Article

Testicular adrenal rest tumours in boys with congenital adrenal hyperplasia: case report and literature review.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2011, v. 17, n. 4, p. 239

By:

Budzyńska, Elżbieta;
Beń-Skowronek, Iwona

Publication type:

Article

Współistnienie nefronoftyzy z wrodzonym przerostem nadnerczy u 9-letniego chłopca. Opis przypadku.

Published in:

Review of Medicine / Przeglad Lekarski, 2019, v. 76, n. 5, p. 312

By:

SOBIESZCZAŃSKA-DROŹDZIEL, Aleksandra;
BECK, Bodo;
SIKORA, Przemysław

Publication type:

Article

Współczesne możliwości diagnostyki i leczenia wrodzonego przerostu nadnerczy spowodowanego niedoborem 21-hydroksylazy.

Published in:

Review of Medicine / Przeglad Lekarski, 2018, n. 4, p. 183

By:

KURZYŃSKA, Anna;
HUBALEWSKA-DYDEJCZYK, Alicja;
PRZYBYLIK-MAZUREK, Elwira

Publication type:

Article

Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort.

Published in:

2013

By:

Krone N;
Rose IT;
Willis DS;
Hodson J;
Wild SH;
Doherty EJ;
Hahner S;
Parajes S;
Stimson RH;
Han TS;
Carroll PV;
Conway GS;
Walker BR;
Macdonald F;
Ross RJ;
Arlt W;
United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE);
Krone, Nils;
Rose, Ian T;
Willis, Debbie S

Publication type:

journal article

Psychosocial Impact of the COVID-19 Pandemic on Children with Congenital Adrenal Hyperplasia and Their Families.

Published in:

Turkish Archives of Pediatrics, 2022, v. 57, n. 6, p. 621, doi. 10.5152/TurkArchPediatr.2022.22096

By:

Çelik, Nur Berna;
Ünsal, Yağmur;
Emet, Dicle Canoruç;
Yeşil, Ayşe Mete;
Şencan, Buse;
Gönç, Elmas Nazlı;
Özön, Zeynep Alev;
Özmert, Elif Nursel;
Alikaşifoğlu, Ayfer

Publication type:

Article

The relationship of carotid intima-media thickness with anthropometric and metabolic parameters in patients with classic congenital adrenal hyperplasia.

Published in:

Turkish Journal of Medical Sciences, 2021, v. 51, n. 4, p. 1738, doi. 10.3906/sag-2001-57

By:

TUHAN, Hale;
ÖZTÜRK, Tülay;
ÇATLI, Gönül;
ACAR, Sezer;
ABACI, Ayhan;
EGELİ, Tuğba;
DEMİR, Korcan;
CAN, Şule;
GÜLERYÜZ, Handan;
DÜNDAR, Bumin;
BÖBER, Ece

Publication type:

Article

Ambigüedad sexual por hiperplasia suprarrenal congénita perdedora de sal por deficiencia de 21-hidroxilasa: Reporte de un caso.

Published in:

Revista del Cuerpo Médico del Hospital Nacional Almanzor Aguinaga Asenjo, 2015, v. 8, n. 1, p. 25

By:

Abarca-Acuña, Bryan;
Delgado-Valencia, Edison;
Atamari-Anahui, Noé;
Zea-Núñez, Carlos

Publication type:

Article

Cognitive function in children with classic congenital adrenal hyperplasia.

Published in:

2018

By:

Hamed, Sherifa Ahmed;
Metwalley, Kotb Abbass;
Farghaly, Hekma Saad

Publication type:

journal article

Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients.

Published in:

2017

By:

Dumic, Miroslav;
Duspara, Vlatko;
Grubic, Zorana;
Oguic, Sasa;
Skrabic, Veselin;
Kusec, Vesna;
Oguic, Sasa Kralik

Publication type:

journal article

The influence of seasonality and manufacturer kit lot changes on 17α-hydroxyprogesterone measurements and referral rates of congenital adrenal hyperplasia in newborns.

Published in:

2017

By:

Tavakoli, Norma;
Pearce, Melissa;
Caggana, Michele;
Dauerer, Erin;
DiRienzo, A.;
DiRienzo, A Gregory;
Tavakoli, Norma P

Publication type:

journal article

Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 5, p. 787, doi. 10.1007/s00431-011-1620-5

By:

Lekarev, Oksana;
Mallet, Delphine;
Yuen, Tony;
Morel, Yves;
New, Maria

Publication type:

Article

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Published in:

2011

By:

Hye Young Jin;
Jin-Ho Choi;
Beom Hee Lee;
Gu-Hwan Kim;
Hyung Kyung Kim;
Han-Wook Yoo;
Jin, Hye Young;
Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Gu-Hwan;
Kim, Hyung Kyung;
Yoo, Han-Wook

Publication type:

journal article

Neural Correlates of Obesity and Inflammation in Children and Adolescents with Congenital Adrenal Hyperplasia.

Published in:

Hormone Research in Paediatrics, 2025, v. 98, n. 2, p. 174, doi. 10.1159/000537847

By:

Kim, Mimi S.;
Pickering, Trevor A.;
Cotter, Devyn L.;
Fraga, Nicole R.;
Luo, Shan;
Won, Cindy Y.;
Geffner, Mitchell E.;
Herting, Megan M.

Publication type:

Article

A Brief History of Congenital Adrenal Hyperplasia.

Published in:

Hormone Research in Paediatrics, 2022, v. 95, n. 6, p. 529, doi. 10.1159/000526468

By:

Miller, Walter L.;
White, Perrin C.

Publication type:

Article

Management of Acute Adrenal Insufficiency-Related Adverse Events in Children with Congenital Adrenal Hyperplasia: Results of an International Survey of Specialist Centres.

Published in:

Hormone Research in Paediatrics, 2022, v. 95, n. 4, p. 363, doi. 10.1159/000525075

By:

Ali, Salma Rashid;
Bryce, Jillian;
Krone, Nils P.;
Claahsen-van der Grinten, Hedi L.;
Ahmed, S.Faisal

Publication type:

Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience.

Published in:

Hormone Research in Paediatrics, 2022, v. 95, n. 1, p. 35, doi. 10.1159/000522230

By:

Lind-Holst, Marie;
Bækvad-Hansen, Marie;
Berglund, Agnethe;
Cohen, Arieh S.;
Melgaard, Lars;
Skogstrand, Kristin;
Duno, Morten;
Main, Katharina M.;
Hougaard, David Michael;
Gravholt, Claus Højbjerg;
Hansen, Dorte

Publication type:

Article

Sex hormone-binding globulin in congenital adrenal hyperplasia.

Published in:

Hormone Molecular Biology & Clinical Investigation, 2010, v. 1, n. 2, p. 89, doi. 10.1515/HMBCI.2010.008

By:

Zamrazilová, Ludmila;
Dvořáková, Marcela;
Lisá, Lidka;
Stárka, Luboslav;
Hampl, Richard

Publication type:

Article

The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 11, p. 1253, doi. 10.1515/jpem-2019-0140

By:

Jiang, Xiang;
Tang, Fang;
Feng, Yi;
Li, Bei;
Jia, Xuefang;
Tang, Chengfang;
Liu, Sichi;
Huang, Yonglan

Publication type:

Article

Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 1/2, p. 13, doi. 10.1515/jpem-2012-0154

By:

Winfeld, Matthew;
Patel, Payal;
Shah, Bina;
Nass, Ruth;
Milla, Sarah

Publication type:

Article

Polycystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene: A Case Report and Review of the Literature.

Published in:

2010

By:

Jehaimi, Cayce T.;
Araiza, Virginia C.;
Batish, Sat D.;
Brosnan, Patrick G.

Publication type:

Case Study

Testicular Adrenal Rest Tumor in a Patient with 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2010, v. 23, n. 7, p. 729

By:

Bayhan, Gülsüm İclal;
Çetinkaya, Semra;
Çnar, Hasibe Gökge;
Aycan, Zehra

Publication type:

Article

Bone Mineral Density in Girls with Classical Congenital Adrenal Hyperplasia due to CYP21 Deficiency.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2008, v. 21, n. 12, p. 1155

By:

Elnecave, Regina Helena;
Kopacek, Cristiane;
Rigatto, Marília;
Brenner, Juliana Keller;
Sisson de Castro, José Augusto

Publication type:

Article

Learning Disabilities Spectrum and Sexual Dimorphic Abilities in Girls with Congenital Adrenal Hyperplasia.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 8, p. 862, doi. 10.1177/0883073808315618

By:

Inozemtseva, Olga;
Matute, Esmeralda;
Juárez, Jorge

Publication type:

Article

Cardiometabolic risk factors in women with non-classic congenital adrenal hyperplasia.

Published in:

Acta Cardiologica, 2020, v. 75, n. 8, p. 705, doi. 10.1080/00015385.2019.1666964

By:

Krysiak, Robert;
Kowalcze, Karolina;
Marek, Bogdan;
Okopień, Bogusław

Publication type:

Article

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

Published in:

Jornal de Pediatria, 2019, v. 95, n. 3, p. 282, doi. 10.1016/j.jped.2018.03.003

By:

Kopacek, Cristiane;
Prado, Mayara J.;
da Silva, Claudia M. D.;
de Castro, Simone M.;
Beltrão, Luciana A.;
Vargas, Paula R.;
Grandi, Tarciana;
Rossetti, Maria L. R.;
Spritzer, Poli Mara

Publication type:

Article

Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study.

Published in:

2015

By:

Atsumi Tsuji;
Kaoru Konishi;
Satomi Hasegawa;
Akira Anazawa;
Toshikazu Onishi;
Makoto Ono;
Tomohiro Morio;
Teruo Kitagawa;
Kenichi Kashimada;
Tsuji, Atsumi;
Konishi, Kaoru;
Hasegawa, Satomi;
Anazawa, Akira;
Onishi, Toshikazu;
Ono, Makoto;
Morio, Tomohiro;
Kitagawa, Teruo;
Kashimada, Kenichi

Publication type:

journal article

Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia.

Published in:

Congenital Anomalies, 2005, v. 45, n. 1, p. 1, doi. 10.1111/j.1741-4520.2005.00052.x

By:

Travitz, Julie;
Westgate, Marie Noel;
Larson, Cecilia;
Holmes, Lewis B.

Publication type:

Article

Leydig cell tumor of the spermatic cord in an adolescent affected by congenital adrenal hyperplasia.

Published in:

International Journal of Urology, 2012, v. 19, n. 10, p. 954, doi. 10.1111/j.1442-2042.2012.03074.x

By:

Ferrari, Matteo;
Raber, Marco;
Capitanio, Umberto;
Russo, Gianni;
Ferrario, Matilde;
Rizzo, Nathalie;
Freschi, Massimo;
Rigatti, Patrizio;
Montorsi, Francesco

Publication type:

Article

The spectrum of clinical, hormonal findings in children with congenital adrenal hyperplasia in Isfahan province; a 20-year review.

Published in:

Hormone Molecular Biology & Clinical Investigation, 2024, v. 45, n. 3, p. 105, doi. 10.1515/hmbci-2022-0116

By:

Hashemipour, Mahin;
Saleh, Rana

Publication type:

Article

Confirmation of congenital adrenal hyperplasia by adrenal steroid profiling of filter paper dried blood samples using ultra-performance liquid chromatography-tandem mass spectrometry.

Published in:

Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 4, p. 677, doi. 10.1515/CCLM.2011.109

By:

Rossi, Claudia;
Calton, Lisa;
Brown, Heather A.;
Gillingwater, Scott;
Wallace, A. Michael;
Petrucci, Francesca;
Ciavardelli, Domenico;
Urbani, Andrea;
Sacchetta, Paolo;
Morris, Michael

Publication type:

Article

Syrian females with congenital adrenal hyperplasia: a case series.

Published in:

2022

By:

Dehneh, Nada;
Jarjour, Rami;
Idelbi, Sahar;
Alibrahem, Assad;
Al Fahoum, Sahar

Publication type:

journal article

Congenital Adrenal Hyperplasia as a Cause of Secondary Hypertension in Adults: Three Cases.

Published in:

Turkish Journal of Endocrinology & Metabolism, 2019, v. 23, n. 2, p. 135, doi. 10.25179/tjem.2019-65085

By:

Anaforoğlu, İnan;
Algün, Ekrem;
Ersoy, Kerem

Publication type:

Article

Hiperplasia adrenal congénita causada por una mutación (Val-281-Leu) de la enzima 21-hidroxilasa.

Published in:

Medicina Interna de Mexico, 2024, v. 40, n. 2, p. 145, doi. 10.24245/mim.v40i2.8286

By:

Hijuelos, Ernesto R. G.;
Manzano Posada, Mariana;
Silva González, Jorge;
Sotelo Lozano, María Teresa;
Galván García, Andrea;
Pérez Gálvez, Fátima;
Ahumada Ayala, Miguel

Publication type:

Article

A Neonate Presenting with Severe Dehydration: A Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.

Published in:

Journal of the Nepal Medical Association, 2024, v. 62, n. 278, p. 706, doi. 10.31729/jnma.8777

By:

Lamichhane, Anita;
Phuyel, Rekha;
Upreti, Manish;
Khadka, Ramesh

Publication type:

Article

Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.

Published in:

Journal of the Nepal Medical Association, 2020, v. 58, n. 221, p. 59, doi. 10.31729/jnma.4811

By:

Khanal, Deepa;
Mandal, Deependra;
Phuyal, Rajan;
Adhikari, Uttara

Publication type:

Article

Woman with virilizing congenital adrenal hyperplasia and leydig cell tumor of the ovary.

Published in:

Gynecological Endocrinology, 2014, v. 30, n. 8, p. 549, doi. 10.3109/09513590.2014.907260

By:

Fernández-García Salazar, Rosario;
Muñoz-Darias, Carmen;
Jesús Haro-Mora, Juan;
Almaraz, M. Cruz;
Audí, Laura;
Martínez-Tudela, Juana;
Yahyaoui, Raquel;
Esteva, Isabel

Publication type:

Article

Genotype and clinical outcomes in children with congenital adrenal hyperplasia.

Published in:

Pediatrics International, 2021, v. 63, n. 6, p. 658, doi. 10.1111/ped.14478

By:

Yoon, Ju Young;
Cheon, Chong Kun

Publication type:

Article

Congenital adrenal hyperplasia.

Published in:

Dermatologic Therapy, 2008, v. 21, n. 5, p. 340, doi. 10.1111/j.1529-8019.2008.00216.x

By:

Demirci, Cem;
Witchel, Selma Feldman

Publication type:

Article

Female pseudohermaphroditism: Congenital adrenal hyperplasia presenting with diffuse hyperpigmentation.

Published in:

2018

By:

Saeed, Wajieha;
Butt, Ghazala;
Khurshid, Khawar

Publication type:

Case Study

A recent overview of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: pathophysiology, recognition, and management.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2023, v. 98, n. 4, p. 307, doi. 10.5114/polp.2023.133534

By:

Podgórski, Rafał;
Podgórska, Dominika;
Sumińska, Marta

Publication type:

Article

Sudden Cardiac Arrest in a Neonate with Congenital Adrenal Hyperplasia.

Published in:

Pediatric Cardiology, 2005, v. 26, n. 5, p. 686, doi. 10.1007/s00246-004-0858-3

By:

Agarwal, S.;
Deshpande, G.;
Agarwal, D.;
Dave, A.;
Shah, J. J.

Publication type:

Article