CONTEXT: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. OBJECTIVE: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. DESIGN AND SETTING: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. MAIN OUTCOME MEASURE(S): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). RESULTS: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). CONCLUSIONS: Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.
CONTEXT: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. OBJECTIVE: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. DESIGN AND SETTING: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. MAIN OUTCOME MEASURE(S): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). RESULTS: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). CONCLUSIONS: Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.
Authors: Kalpana Muthusamy; Mohamed B Elamin; Galina Smushkin; Mohammad Hassan Murad; Julianna F Lampropulos; Khalid B Elamin; Nisrin O Abu Elnour; Juan F Gallegos-Orozco; Mitra M Fatourechi; Neera Agrwal; Melanie A Lane; Felipe N Albuquerque; Patricia J Erwin; Victor M Montori Journal: J Clin Endocrinol Metab Date: 2010-09 Impact factor: 5.958
Authors: Evangelia Charmandari; Martina Weise; Stefan R Bornstein; Graeme Eisenhofer; Margaret F Keil; George P Chrousos; Deborah P Merke Journal: J Clin Endocrinol Metab Date: 2002-05 Impact factor: 5.958
Authors: Thomas M K Völkl; Diemud Simm; Jörg Dötsch; Wolfgang Rascher; Helmuth G Dörr Journal: J Clin Endocrinol Metab Date: 2006-09-26 Impact factor: 5.958
Authors: Anne Bachelot; Zeina Chakhtoura; Dinane Samara-Boustani; Jérome Dulon; Philippe Touraine; Michel Polak Journal: Int J Pediatr Endocrinol Date: 2010-09-28
Authors: F Gastaud; C Bouvattier; L Duranteau; R Brauner; E Thibaud; F Kutten; P Bougnères Journal: J Clin Endocrinol Metab Date: 2007-02-06 Impact factor: 5.958
Authors: H L Claahsen-van der Grinten; B J Otten; M M L Stikkelbroeck; F C G J Sweep; A R M M Hermus Journal: Best Pract Res Clin Endocrinol Metab Date: 2009-04 Impact factor: 4.690
Authors: Kyriakie Sarafoglou; Gregory P Forlenza; O Yaw Addo; Jennifer Kyllo; Aida Lteif; P C Hindmarsh; Anna Petryk; Maria Teresa Gonzalez-Bolanos; Bradley S Miller; William Thomas Journal: Clin Endocrinol (Oxf) Date: 2017-03-28 Impact factor: 3.478
Authors: Mimi S Kim; Anna Ryabets-Lienhard; Anh Dao-Tran; Steven D Mittelman; Vicente Gilsanz; Sheree M Schrager; Mitchell E Geffner Journal: J Clin Endocrinol Metab Date: 2015-06-10 Impact factor: 5.958
Authors: Adina F Turcu; Joanna L Spencer-Segal; Robert H Farber; Rosa Luo; Dimitri E Grigoriadis; Carole A Ramm; David Madrigal; Tim Muth; Christopher F O'Brien; Richard J Auchus Journal: J Clin Endocrinol Metab Date: 2016-01-11 Impact factor: 5.958
Authors: Alyssa Halper; Belen Sanchez; James S Hodges; Aaron S Kelly; Donald Dengel; Brandon M Nathan; Anna Petryk; Kyriakie Sarafoglou Journal: Clin Endocrinol (Oxf) Date: 2018-03-24 Impact factor: 3.478