Abnormalities in adrenal steroidogenesis in Chilean boys with micropenis;Anomalías de la esteroidogénesis suprarrenal en niños chilenos con micropene

Revista Medica de Chile

Volumn 131, Issue 1, 2003, Pages 46-54

  Sapunar Z, Jorge ^a,d   Vidal P, Teresa ^b   Bauer V, Karin ^c  

^a UNIVERSIDAD DE LA FRONTERA   (Chile)

^b UNIVERSIDAD DE LA FRONTERA   (Chile)

^c Hospital Regional de Temuco   (Chile)

^d NONE   (Chile)

Author keywords

Cytochrome p 450 CYPc21; Oxido reductases; Steroids; Virilism

Indexed keywords

ANDROSTENEDIONE; CORTICOTROPIN; HYDROXYPROGESTERONE; PRASTERONE; PROGESTERONE; STEROID 21 MONOOXYGENASE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; ANDROSTANE DERIVATIVE; STEROID;

ADRENAL GLAND; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; CHILD; CHILE; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; HUMAN; MALE; MICROPENIS; PREVALENCE; PROGESTERONE BLOOD LEVEL; PUBERTY; STEROIDOGENESIS; VIRILIZATION; BLOOD; CONGENITAL MALFORMATION; ENZYMOLOGY; GENETICS; INFANT; METABOLISM; MUTATION; PENIS; PRESCHOOL CHILD;

3-HYDROXYSTEROID DEHYDROGENASES; ADRENAL GLANDS; ADRENOCORTICOTROPIC HORMONE; ANDROSTENES; CHILD; CHILD, PRESCHOOL; CHILE; HUMANS; INFANT; MALE; MUTATION; PENIS; PROGESTERONE; STEROID 21-HYDROXYLASE; STEROIDS;

EID: 0038621744     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. LEE PA, SIEGEL SW. Androgens in infancy, childhood, and adolescence. In: Redmond GP, ed.: Androgenic Disorders. New York, Raven Press; 1995; 59-76.
2. BIN-ABBAS B, CONTE FA, GRUMBACH MM, KAPLAN SL. Congenital hypogonadotropic hypogonadism and micropenis: Effect of testosterone treatment on adult penile size. Why sex reversal is not indicated? J Pediatr 1999; 134: 579-85.
3. LEVY JB, HUSMAN DA. Micropenis secondary to growth hormone deficiency: Does treatment with growth hormone alone result in adequate penile growth? J Urology 1996; 156: 214-6.
4. AARONSON IA. Micropenis: Medical and surgical implications. J Urology 1994; 152: 4-14.
5. BÉRUBÉ D, LUU THE V, LACHANCE Y, GAGNÉ R, LABRIE F. Assignment of the human 3B-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 hand of chromosome 1. Cytogenet Cell Genet 1989; 52: 199-200.
6. LUU THE V, LACHANCE Y, LABRIE C, LEBLANC G, THOMAS JL, STRICKLER RC, LABRIE F. Full length cDNA structure and deduced amino acid sequence fo human 3B-hydroxy-5-Ene steroid dehydrogenase. Mol Endo 1989; 3: 1310-2.
7. ZHANG L, SAKKAL-ALKADDOUR H, CHANG YT, YANG X, PANG S. A new compound heterozygous frameshift mutation in the type II 3B-hydroxisteroid dehydrogenase (3B-HSD) gene causes salt-wasting 3B-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 1996; 81: 291-5.
8. BONGIOVANNI AM, KELLENBENZ G. The adrenogenital syndrome with deficiency of 3B-hydroxysteroid dehydrogenase. J Clin Endocrinol Metab 1962; 41: 2086-92.
9. PANG S, LEVINE LS, STONER E, OPITZ JM, POLLACK MS, DUPONT B, NEW MI. Nonsalt-losing congenital adrenal hyperplasia due to 3B-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. J Clin Endocrinol Metab 1983; 56: 808-18.
10. RHEÁUME E, SÁNCHEZ R, SIMARD J, CHANG YT, WANG J, PANG S, LABKIE F. Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3B-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1994; 79: 1012-8.
11. MÉBARKI F, SÁNCHEZ R, RHÉAUME E, LAFLAMME N, SIMARD J, FOREST MG, BEY-OMAR F, DAVID M, LABRIE F, MOREL Y. Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3B-hydroxysteroid dehydrogenase gene. J Clin Endocrinol Metab 1995; 80: 2127-34.
12. XVI CENSO NACIONAL DE POBLACIÓN 1992. Población Mapuche. Tabulaciones Especiales. Serie CELADE LC/DEM/G 178/OI 127 Temuco, Chile 1998.
13. LEE PA. Micropenis. Criteria, etiologies and classification. Johns Hopkins Med J 1980; 146: 156.
14. SAPUNAR J. ¿Se puede utilizar la etnia como variable de exposición en investigación epidemiológica? Rev Méd Sur 2000; 22: 68-72.
15. LASHANSKY G, SAENGER P, FISHMAN K, GAUTIER T, MAYES D, BERG G, DI MARTINO-NARDI J, REITER E. Normative data for adrenal steroidogenesis in a healthy pediatric population: Age and sex-related changes after adrenocorticotropin stimulation. J Clin Endocrinol Metab 1991; 73: 674-86.
16. OLIVEIRA-SANTOS H, ROLIM DE MOURA E, AREAS R. Medida antropomé trica peneana en lactantes y prescolares. Bol Med Hosp Infant Mex 1986; 43: 161-5.
17. PERHEENTUPA FMJ, ADLERCREUTZ H. Plasma and urinary androgens and oestrogens in a pubertal boy with 3B-hydroxysteroid dehydrogenase deficiency. J Steroid Biochem 1979; 13: 197-201.
18. BONGIOVANNI AM. Acquired adrenal hyperplasia: With special reference to 3B-hydroxysteroid dehydrogenase. Fertil Steril 1981; 35: 599-608.
19. PANG S, LERNER AJ, STONER E, LEVINE LS, OBERFIELD SE, ENGEL I, NEW MI. Late-onset adrenal steroid 3B-hydroxysteroid dehydrogenase deficiency. I. A cause fo hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab 1985; 60: 428-39.
20. SAPUNAR J, RODRÍGUEZ JA, ARTEAGA E, LÓPEZ JM, CATTANI A, GONZÁLEZ G, CAMPINO C, ALVAREZ S. Defecto de 3B hidroxiesteroide deshidrogenasa. Frecuencia en una muestra de mujeres chilenas con hirsutismo. Rev Méd Chile 1993; 121: 11-5.
21. MATHIESON J, COUZINET B, WEKSTEIN-NOEL S, NAHOUL K, TURPIN G, SCHAISON G. The incidence of late-onset congenital adrenal hyperplasia due to 3B-hydroxysteroid dehydrogenase deficiency among hirsute women. Clin Endocrinol 1992; 36: 383-8.
22. LUTFALLAH C, WANG W, MASON I ET AL. Newly proposed hormonal criteria via genotypic proof for type II 3B-hydroxysteroid dehydrogenade deficiency. J Clin Endocrinol Metab 2002; 87: 2611-22.
23. BRIDGES NA, HINDMARSH PC, PRINGLE PJ, HONOUR JW, BROOK CGD. Cortisol, androstenedione, dehydroepiandrosterone sulphate and 17 hydroxyprogesterone responses to low doses of (1-24) ACTH. J Clin Endocrinol Metab 1998; 83: 3750-3.
24. HUNTER H. XYY males. Some clinical and psychiatric aspects deriving from a survey of 1,811 males in hospitals for the mentally handicapped. Br J Psychiat 1977; 131: 468-77.
25. ZERAH M, RHÉAUME E, MANI P, SCHRAM P, SIMARD J, LABRIE F, NEW MI. No evidence of mutations in the genes for type I and typell 3B-hydroxysteroid dehydrogenase (3BHSD) in nonclassical 3BHSD deficiency. J Clin Endocrinol Metab 1994; 79: 1811-7.
26. ROSENFIELD RL. Editorial: Evidence that idiopathic functional adrenal hyperandrogenism is caused by disregulation of adrenal steroidogenesis and the hyperinsulinemia may be involved. J Clin Endocrinol Metab 1996; 81: 878-80.
27. NIMKARN S, CERAME BI, WEI JQ, DUMIC M, ZUNEC R, BRKLJACIC L, SKRABIC V, NEW MI, WILSON R. Congenital adrenal hyperplasia (21-hidroxilase deficiency) without demostrable genetic mutations. J Clin Endocrinol Metab ???; 84: 378-81.
28. ABRAHAM GE, BUSTER JE, KYLE FW, CORRALES P, TELLER R. Radioimmunoassay of plasma pregnenolone, 17-hydroxypregnenolone and dehydroepiandrosterone under various physiological conditions. J Clin Endocrinol Metab 1973; 37: 140-4.
29. 5-steroids in patients with congenital adrenal hyperplasia due to 21-hydroxilase deficiency. J Clin Endocrinol Metab 1994; 78: 299-304.
30. LEVY JB, HUSMANN DA. Congenital adrenal hyperplasia: Is there an effect on penile growth? J Urol 1996; 156: 780-2.