Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase type II deficiency in 4 Saudi children. Long term follow up

Saudi Medical Journal

Volumn 25, Issue 9, 2004, Pages 1293-1295

  Bin Abbas, Bassam S ^a   Sakati, Nadia A ^a   Al Ashwal, Abdullah A ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CORTICOTROPIN; FLUDROCORTISONE; HYDROCORTISONE; TESTOSTERONE; TETRACOSACTIDE;

ACIDOSIS; ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILDHOOD DISEASE; CONGENITAL ADRENAL HYPERPLASIA; CORTICOTROPIN BLOOD LEVEL; DEHYDRATION; ENZYME DEFICIENCY; FEMALE; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERKALEMIA; HYPONATREMIA; HYPOSPADIAS; MALE; SAUDI ARABIA; SCHOOL CHILD; SIBLING; TESTOSTERONE BLOOD LEVEL; ULTRASOUND; VOMITING;

3-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; PEDIGREE; RISK ASSESSMENT; SAUDI ARABIA; SEVERITY OF ILLNESS INDEX;

EID: 5044222939     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Pang S. Congenital adrenal hyperplasia owing to 3beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am 2001; 30:81-99.
2. Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, et al. Newly proposed hormonal criteria via genotypic proof for type II 3b-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 2002; 87: 2611-2622.
3. Moisan AM, Rickettes ML, Tardy V, Desrochers M, Mebarki F, Chaussain J, et al. New insights into the molecular basis of 3b-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes. J Clin Endocrinol Metab 1999; 84: 4410-4425.
4. Alos N, Moisan AM, Ward L, Desrochers M, Legault L, Leboeuf G, et al. A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3-beta-hydroxysteroid dehydrogenase deficiency in 46XX and 46XY French-Canadians: evaluation of gonadal function after puberty. J Clin Endocrinol Metab 2000; 85: 1968-1974.
5. Parks GA, Bermudez JA, Anast CS, Bongiovanni AM, New MI. Pubertal boy with the 3b-hydroxysteroid dehydrogenase defect. J Clin Endocrinol Metab 1971; 33: 269-278.