A case of 3β-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: Difficulties and delay in etiologic diagnosis

Hormone Research

Volumn 68, Issue 4, 2007, Pages 204-208

  Nordenström, Anna ^a   Forest, Maguelone G ^c   Wedell, Anna ^a,b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b HÔPITAL DEBROUSSE   (France)

^c NONE

Author keywords

3 Hydroxysteroid dehydrogenase type II; Assay cross reactivity; HSD3B2 gene; Neonatal screening, congenital adrenal hyperplasia

Indexed keywords

17 HYDROXYPREGNENOLONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; ALDOSTERONE; ANDROSTENEDIONE; CORTICOTROPIN; FLUDROCORTISONE; GLUCOSE; HYDROCORTISONE; HYDROXYPROGESTERONE; POTASSIUM; PRASTERONE; PROGESTERONE; RENIN; SODIUM; SODIUM CHLORIDE; TESTOSTERONE;

3BETA HYDROXYSTEROID DEHYDROGENASE TYPE 2 DEFICIENCY; ADRENAL CORTEX INSUFFICIENCY; ANDROSTENEDIONE BLOOD LEVEL; ANTIBODY SPECIFICITY; ARTICLE; CASE REPORT; CROSS REACTION; DELAYED DIAGNOSIS; DIAGNOSTIC ERROR; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HORMONE BLOOD LEVEL; HORMONE DEFICIENCY; HUMAN; HYPERKALEMIA; HYPOGLYCEMIA; HYPONATREMIA; INFANT; LABORATORY TEST; MINERALOCORTICOID DEFICIENCY; NEWBORN SCREENING; POTASSIUM BLOOD LEVEL; PRIORITY JOURNAL; SODIUM BLOOD LEVEL; STEROID 21 MONOOXYGENASE DEFICIENCY; CONGENITAL ADRENAL HYPERPLASIA; DIFFERENTIAL DIAGNOSIS; GENETICS; NEWBORN;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL HYPERPLASIA, CONGENITAL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING;

EID: 34548491500     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000102593     Document Type: Article

References (23)

1. 4 isomerase gene family. Endocr Rev 2005;26:525-582.
2. Marui S, Castro M, Latronico AC, Elias LL, Arnhold IJ, Moreira AC, Mendonca BB: Mutations in the type II 3β-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls. Clin Endocrinol (Oxf) 2000;52:67-75. Erratum in: Clin Endocrinol (Oxf) 2004;60:527.
3. Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mebarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J: New insight into the molecular basis of 3β-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. Simard J, Ricketts ML, Moisan AM, Tardy V, Peter M, Van Vliet G, Morel Y: A new insight into the molecular basis of 3β-hydroxysteroid dehydrogenase deficiency. Endocr Res 2000;26:761-770.
5. Carbunaru G, Prasad P, Scoccia B, Shea P, Hopwood N, Ziai F, Chang YT, Myers SE, Mason JI, Pang S: The hormonal phenotype of nonclassic 3β-hydroxysteroid dehydrogenase (HSD3B) deficiency in hyperandrogenic females is associated with insulin-resistant polycystic ovary syndrome and is not a variant of inherited HSD3B2 deficiency. J Clin Endocrinol Metab 2004;89:783-794.
6. 5- steroids. Fertil Steril 2000;74:553-557.
7. Pang S, Carbunaru G, Haider A, Copeland KC, Chang YT, Lutfallah C, Mason JI: Carriers for type II 3β-hydroxysteroid dehydrogenase (HSD3B2) deficiency can only be identified by HSD3B2 genotype study and not by hormone test. Clin Endocrinol (Oxf) 2003;58:323-331.
8. Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW; ESPE/LWPES CAH Working Group: Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002;58:188-195.
9. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, Dobbins RH, Kling S, Fujieda K, Suwa S: Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-874.
10. Nordenström A, Thilén A, Hagenfeldt L, Larsson A, Wedell A: Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1999;84:1505-1509.
11. Cara JF, Moshang T Jr, Bongiovanni AM, Marx BS: Elevated 17-hydroxyprogesterone and testosterone in a newborn with 3β-hydroxysteroid dehydrogenase deficiency. N Engl J Med 1985;313:618-621.
12. Tardy V, Toublanc J, Nivelon JL, Dorche C, Morel Y: Genotyping of 150 patients detected by French neonatal screening of 21-hydroxylase deficiency (1985-1997): more than 97% have a classic form (abstract). Horm Res 2000;53(suppl 2):77.
13. Johannsen TH, Mallet D, Dige-Petersen H, Muller J, Main KM, Morel Y, Forest MG: Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 2005;90:2076-2080.
14. Brody S, Carlström K, Lagrelius A, Lunell NO, Rosenborg L: Serum levels of 4-androstene-3,17-dione in menstruating and postmenopausal women: evaluation of a radioimmunoassay and correlation with bone mineral content and endometrial pathology. Acta Obstet Gynecol Scand 1983;62:531-534.
15. Stege R, Eriksson A, Henriksson P, Carlström K: Orchidectomy or oestrogen treatment in prostatic cancer: effects on serum levels of adrenal androgens and related steroids. Int J Androl 1987;10:581-587.
16. Axelson M, Sahlberg BL, Sjövall J: Analysis of profiles of conjugated steroids in urine by ion-exchange separation and gas chromatography-mass spectrometry. J Chromatogr Biomed Appl 1981;224:355-370.
17. Forest MG, de Peretti E, Lecoq A, Cadillon E, Zabot MT, Thoulon JM: Concentration of 14 steroid hormones in human amniotic fluid of midpregnancy. J Clin Endocrinol Metab 1980;51:816-822.
18. McCartin SR, Fisher RA, Wallace AM, Arnhold IJ, Mason JI, Varley J, Mendonca BB, Sutcliffe RG: Phenotypic variability and origins of mutations in the gene encoding 3β-hydroxysteroid dehydrogenase type II. J Mol Endocrinol 2000;24:75-82.
19. Reiter JC, Leveau P, Tardy V, Forest MG, Morel Y: Diagnostic criteria for the diagnosis of 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency: lessons from hormonal and molecular studies in 2 girls presenting with premature pubarche (abstract). Horm Res 2000;53(suppl 2):76.
20. Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland K, David R, Pang S: Newly proposed hormonal criteria via genotypic proof for type II 3β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 2002;87:2611-2622.
21. Mermejo LM, Elias LL, Moreira AC, Mendonca BB, Castro M: Refining hormonal diagnosis of type II 3β-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin Endocrinol Metab 2005;90:1287-1293.
22. Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A: Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics 2001;108:E68.
23. Doerr HG, Sippell WG, Versmold HT, Bidlingmaier F, Knorr D: Plasma mineralocorticoids, glucocorticoids, and progestins in premature infants: longitudinal study during the first week of life. Pediatr Res 1988;23:525-529.