Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

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.

Establishment of the first newborn screening program in the People's Democratic Republic of Laos.

OBJECTIVES: The People's Democratic Republic of Laos belongs to the minority of countries worldwide without an established newborn bloodspot screening (NBS) system. METHODS: In 2008, we initiated a pilot project of a neonatal screening system in the delivery suites of the Laotian capital, Vientiane. Samples were analysed for thyrotropin-stimulating hormone and 17-hydroxyprogesterone. RESULTS: Altogether 11 362 samples were taken; an initially high recall rate dropped eventually to just above 4%. Two cases of hypothyroidism and one case of congenital adrenal hyperplasia were identified and received timely treatment. CONCLUSIONS: In summary, we have demonstrated the feasibility of establishing an NBS system in a low-resource setting as prevalent in Laos. Obstacles for the establishment of a general NBS covering the whole country include the question of financial cover, treatment costs, and adequate teaching and supervision of technicians and doctors.