...L. Nate Overholtzer; Shan Luo; Seung-Lark Lim; Trevor A. Pickering; Nicole R. Fraga; Elaine Kim; Megan M. Herting; Veeraya K. Tanawattanacharoen; Mitchell E. Geffner; Mimi S. Kim Introduction: Children and adolescents with congenital adrenal hyperplasia (CAH) are at increased risk for obesity...

...Emre Murat Altinkilic; Camilla Mains Balle; Clarissa Daniela Voegel; Therina du Toit; Amit V. Pandey; Claus H. Gravholt; Christa E. Flück Introduction: Non-classic lipoid congenital adrenal hyperplasia (LCAH) presents with adrenal insufficiency but typically lacks a gonadal phenotype or features...

...Asmahane Ladjouze; Yasmina Ouarezki; Adel Djermane; Sakina Kherra; Meriem Bensalah; Kahina Mohammedi; Dalila Douiri; Nourredine Boutaghane; Zair Bouzerar; Guy Van Vliet Introduction: Screening for congenital adrenal hyperplasia (CAH) through the measurement of 17-hydroxyprogesterone on the neonatal...

...Marie Lind-Holst; Agnethe Berglund; Morten Duno; Gitte Hvistendahl; Magdalena Fossum; Anders Juul; Niels Jørgensen; Katharina M. Main; Claus H. Gravholt; Dorte Hansen Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aimed to describe...

... Randell; Fiona Ryan; Sue Elford; Sallyann Blackett; Nils P. Krone Introduction: Quantifying differences in service provision for children and young people (CYP) living with congenital adrenal hyperplasia (CAH) across the UK. Methods: A national service evaluation using online questionnaires circulated...

...Mimi S. Kim; Trevor A. Pickering; Devyn L. Cotter; Nicole R. Fraga; Shan Luo; Cindy Y. Won; Mitchell E. Geffner; Megan M. Herting Introduction: Patients with classical congenital adrenal hyperplasia (CAH) exhibit an increased prevalence of obesity from childhood including central adiposity...

...Sebastian Gidlöf; Daniel Eriksson Hogling; Hanna Lönnberg; Martin Ritzén; Svetlana Lajic; Anna Nordenström Introduction: Congenital adrenal hyperplasia (CAH) due to 21α-hydroxylase deficiency results in inadequate cortisol and aldosterone synthesis and concomitant overproduction of adrenal...

...Rita Saroufim; Todd D. Nebesio; Erica A. Eugster Introduction: Newborn screening for congenital adrenal hyperplasia (CAH) has been in place in the USA for over 20 years. However, not all patients with classic CAH are diagnosed as neonates. Our aim was to characterize patients with classic CAH who...

...Chamila Balagamage; Neil R. Lawrence; Ruth Krone; Irina A. Bacila; Nils P. Krone Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) leads to impaired glucocorticoid and mineralocorticoid synthesis with excess production of androgens. Replication of the normal...

...Katherine A. Traino; Nathan L. Basile; Hui-Fen Chang; Rachel S. Fisher; Taylor M. Dattilo; Larry L. Mullins; Annastasia Ediati; Amy B. Wisniewski Introduction: There are increased calls to address psychosocial needs among individuals with classical congenital adrenal hyperplasia (CAH). However...

...Ilja Dubinski; Susanne Bechtold; Martin Bidlingmaier; Nicole Reisch; Heinrich Schmidt Introduction: Children with classical congenital adrenal hyperplasia (CAH) have an impaired steroid synthesis due to 21-hydroxylase dysfunction and require glucocorticoid replacement. Therapy management...

...Andrea N. Navarro-Zambrana; Lincoln R. Sheets Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder that causes defects in the adrenal cortex enzymes that impair the biosynthesis of cortisol, aldosterone, or both. The most common type is the 21-hydroxylase...

...)Experimental: testicular tissue cryopreservationRarely spontaneous pregnancyExperimental: ovarian tissue cryopreservation CAH, congenital adrenal hyperplasia; MRKH, Mayer-Rokitansky-Küster-Hauser; TS, Turner syndrome; KS, Klinefelter syndrome; GD, gonadal dysgenesis; PAIS, partial androgen insensivity...

...Tracey A. Conlon; Colin P. Hawkes; Jennifer J. Brady; J. Gerard Loeber; Nuala Murphy Introduction: Newborn screening (NBS) programmes vary internationally in their approach to screening. Guidelines for congenital adrenal hyperplasia (CAH) screening recommend the use of two-tier testing...

...Vidya Rajagopalan; Lloyd N. Overholtzer; William S. Kim; Jessica L. Wisnowski; Trevor A. Pickering; Nicole R. Fraga; Joyce Javier; Liza Mackintosh; Christine Mirzaian; Mitchell E. Geffner; Mimi S. Kim Introduction: Patients with classical congenital adrenal hyperplasia (CAH) have prenatal...

...Todd D. Nebesio; Mimi S. Kim; Konrad M. Szymanski; Paul J. Kokorowski; Mitchell E. Geffner; Erica A. Eugster; on behalf of the Life with Congenital Adrenal Hyperplasia Study Group Background: Testicular adrenal rest tumors (TARTs) increase the risk of infertility in males with classic congenital...

...Walter L. Miller; Perrin C. White The adrenal has played a major role in the history of pediatric endocrinology. Cases of congenital adrenal hyperplasia (CAH) were reported in the 19th century, leading to the understanding that the adrenal influenced sexual phenotypes as well as being mysteriously...

...Lauren A. Logan; Todd D. Nebesio; George J. Eckert; Erica A. Eugster Background: Three times daily (TID) hydrocortisone (HC) is recommended as the optimal glucocorticoid regimen in growing children with congenital adrenal hyperplasia (CAH). However, a variety of other treatment schemes are used...

... the level of consensus on criteria considered essential for defining and managing these events in children with Congenital Adrenal Hyperplasia. Methods: Active users of the International Congenital Adrenal Hyperplasia and International Disorders of Sex Development (I-CAH/I-DSD) Registries ( n = 66), non...

...Paolo Cavarzere; Marta Camilot; Laura Palma; Silvana Lauriola; Rossella Gaudino; Monica Vincenzi; Franco Antoniazzi; Francesca Teofoli; Giorgio Piacentini Background: Newborn screening for congenital adrenal hyperplasia (CAH) based on 17-hydroxyprogesterone (17-OHP) concentration in dried blood...