Thomas Hoehn1, Zoltan Lukacs2, Wolfgang Huckenbeck3, Toni Torresani4, Oliver Blankenstein5, Saysanasongkham Bounnack6. 1. Department of General Pediatrics, Neonatology and Pediatric Cardiology, Neonatology and Pediatric Intensive Care Medicine, Heinrich-Heine-University, Duesseldorf 40225, Germany thomas.hoehn@uni-duesseldorf.de. 2. Newborn Screening and Metabolic Diagnostics, Hamburg University Medical Center, Hamburg 20246, Germany. 3. Institute for Forensic Medicine, Duesseldorf 40225, Germany. 4. Children's Hospital, Zurich 8032, Switzerland. 5. Institute for Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, Berlin 13353, Germany. 6. Ministry of Health, Vientiane, Laos.
Abstract
BACKGROUND: Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss. AIM: To predict presence or absence of salt loss in newborn infants with CAH. METHODS: The first specimen of suspected CAH in samples sent from People's Democratic Republic of Laos (Lao PDR) was investigated for known mutations in CAH associated with salt loss. RESULTS: Molecular genetic diagnosis revealed mutations associated with loss of function in both alleles; however, the infant was clinically unaffected even without any corticosteroid substitution therapy. CONCLUSIONS: Although molecular genetic methods can theoretically predict loss of function in CAH, our infant was clinically unaffected even without therapy at 6 years of age. We speculate that in CAH, remaining enzyme activity can be sufficiently high, despite the presence of loss of function mutations, which do not affect infants clinically.
BACKGROUND: Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss. AIM: To predict presence or absence of salt loss in newborn infants with CAH. METHODS: The first specimen of suspected CAH in samples sent from People's Democratic Republic of Laos (Lao PDR) was investigated for known mutations in CAH associated with salt loss. RESULTS: Molecular genetic diagnosis revealed mutations associated with loss of function in both alleles; however, the infant was clinically unaffected even without any corticosteroid substitution therapy. CONCLUSIONS: Although molecular genetic methods can theoretically predict loss of function in CAH, our infant was clinically unaffected even without therapy at 6 years of age. We speculate that in CAH, remaining enzyme activity can be sufficiently high, despite the presence of loss of function mutations, which do not affect infants clinically.
Authors: Ahmed Khattab; Tony Yuen; Sultan Al-Malki; Mabel Yau; Diya Kazmi; Li Sun; Madeleine Harbison; Shozeb Haider; Mone Zaidi; Maria I New Journal: Ann N Y Acad Sci Date: 2015-08-20 Impact factor: 5.691
Authors: Yangho Yoo; Mi Sun Chang; Jieun Lee; Sung Yoon Cho; Sung Won Park; Dong-Kyu Jin; Hyung-Doo Park Journal: Ann Pediatr Endocrinol Metab Date: 2013-09-30