A novel homozygous Q334X mutation in the HSD3B2 gene causing classic 3β-hydroxysteroid dehydrogenase deficiency: An unexpected diagnosis after a positive newborn screen for 21-hydroxylase deficiency

Hormone Research in Paediatrics

Volumn 77, Issue 5, 2012, Pages 334-338

  Jeandron, Debra D ^a   Sahakitrungruang, Taninee ^b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b CHULALONGKORN UNIVERSITY   (Thailand)

Author keywords

3 hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia; Mutation; Sex steroids

Indexed keywords

17 HYDROXYPREGNENOLONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE;

3BETA HYDROXYSTEROID DEHYDROGENASE DEFICIENCY; AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; FAMILY HISTORY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HSD3B2 GENE; HUMAN; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PRIORITY JOURNAL; SALT WASTING; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; CODON, NONSENSE; FEMALE; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PROGESTERONE REDUCTASE; STEROID 21-HYDROXYLASE;

EID: 84863327981     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000336004     Document Type: Article

References (20)

1. Lorence MC, Murry BA, Trant JM, Mason JI: Human 3 -hydroxysteroid dehydrogenase/ 5 ] 4 isomerase from placenta: expression in nonsteroidogenic cells of a protein that catalyzes the dehydrogenation/isomerization of C21 and C19 steroids. Endocrinology 1990; 126: 2493-2498.
2. Luu-The V, Lachance Y, Labrie C, Leblanc G, Thomas JL, Strickler RC, Labrie F: Full length cDNA structure and deduced amino acid sequence of human 3 -hydroxy-5-ene steroid dehydrogenase. Mol Endocrinol 1989; 3: 1310-1312.
3. Lorence MC, Corbin CJ, Kamimura N, Mahendroo MS, Mason JI: Structural analysis of the gene encoding human 3 -hydroxysteroid dehydrogenase/ 5 ] 4 -isomerase. Mol Endocrinol 1990; 4: 1850-1855.
4. Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guerin S, Leblanc G, Labrie F: Characterization of human 3 -hydroxysteroid dehydrogenase/ 5 - 4 - isomerase gene and its expression in mammalian cells. J Biol Chem 1990; 265: 20469-20475.
5. Rheaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J, Labrie F: Structure and expression of a new complementary DNA encoding the almost exclusive 3 -hydroxysteroid dehydrogenase/ 5 - 4 -isomerase in human adrenals and gonads. Mol Endocrinol 1991; 5: 1147-1157.
6. BongioVanni AM: The adrenogenital syndrome with deficiency of 3 -hydroxysteroid dehydrogenase. J Clin Invest 1962; 41: 2086-2092.
7. Simard J, Ricketts ML, Gingras S, Soucy P, Feltus FA, Melner MH: Molecular biology of the 3 -hydroxysteroid dehydrogenase/ 5 - 4 -isomerase gene family. Endocr Rev 2005; 26: 525-582.
8. Miller WL, Auchus RJ: The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 2011; 32: 81-151.
9. Tusie-Luna MT, Traktman P, White PC: Determination of functional effects of mutations in the steroid 21-hydroxylase geneCYP21) using recombinant vaccinia virus. J Biol Chem 1990; 265: 20916-20922.
10. Scott RR, Miller WL: Genetic and clinical features of P450 oxidoreductase deficiency. Horm Res 2008; 69: 266-275.
11. Krone N, Dhir V, Ivison HE, Arlt W: Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin EndocrinolOxf) 2007; 66: 162-172.
12. Byrns MC, Steckelbroeck S, Penning TM: An indomethacin analogue, N-(4-chlorobenzoyl)- melatonin, is a selective inhibitor of aldo-keto reductase 1C3type 2 3 -HSD, type 5 17 -HSD, and prostaglandin F synthase), a potential target for the treatment of hormone dependent and hormone independent malignancies. Biochem Pharmacol 2008; 75: 484-493.
13. Auchus RJ, Lee TC, Miller WL: Cytochrome b5 augments the 17,20 lyase activity of human P450c17 without direct electron transfer. J Biol Chem 1998; 273: 3158-3165.
14. 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 3 -hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene 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.
15. Chang YT, Kulin HE, Garibaldi L, Suriano MJ, Bracki K, Pang S: Hypothalamic-pituitary- gonadal axis function in pubertal male and female siblings with glucocorticoidtreated nonsalt-wasting 3 -hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia. J Clin. Endocrinol. Metab. 1993; 77: 1251-1257.
16. Sanchez R, Rheaume E, Laflamme N, Rosenfield RL, Labrie F, Simard J: Detection and functional characterization of the novel missense mutation Y254D in type II 3 -hydroxysteroid dehydrogenase3 HSD) gene of a female patient with nonsalt-losing 3 HSD deficiency. J Clin. Endocrinol. Metab. 1994; 78: 561-567.
17. Lutfallah C, Wang W, Mason JI, Chang YT, Haider A, Rich B, Castro-Magana M, Copeland KC, David R, Pang S: Newly proposed hormonal criteria via genotypic proof for type II 3 -hydroxysteroid dehydrogenase deficiency. J Clin. Endocrinol. Metab. 2002; 87: 2611-2622.
18. Mermejo LM, Elias LL, Marui S, Moreira AC, Mendonca BB, de Castro M: Refining hormonal diagnosis of type II 3 -hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping. J Clin. Endocrinol. Metab. 2005; 90: 1287-1293.
19. Welzel M, Wustemann N, Simic-Schleicher G, Dorr HG, Schulze E, Shaikh G, Clayton P, Grotzinger J, Holterhus PM, Riepe FG: Carboxyl- terminal mutations in 3 -hydroxysteroid dehydrogenase type II cause severe salt-wasting congenital adrenal hyperplasia. J Clin. Endocrinol. Metab. 2008; 93: 1418-1425.
20. Tajima T, Fujieda K, Nakae J, Shinohara N, Yoshimoto M, Baba T, Kinoshita E, Igarashi Y, Oomura T: Molecular analysis of type II 3 -hydroxysteroid dehydrogenase gene in Japanese patients with classical 3 - hydroxysteroid dehydrogenase deficiency. Hum Mol Genet 1995; 4: 969-971.