Aromatase deficiency, a rare syndrome: Case report

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 5, Issue 2, 2013, Pages 129-132

  Kartal Baykan, Emine ^a   Erdoǧan, Mehmet ^a   Özen, Samim ^a   Darcan, Şükran ^a   Fusun Saygili L ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

Aromatase deficiency; Delayed epiphyseal closure; Estrogen deficiency; Replacement therapy

Indexed keywords

ALKALINE PHOSPHATASE; AROMATASE; CHOLESTEROL; ESTRADIOL; ESTROGEN; FOLLITROPIN; GLUCOSE; INSULIN; LUTEINIZING HORMONE; OSTEOCALCIN; TESTOSTERONE; TRIACYLGLYCEROL;

ADULT; AROMATASE DEFICIENCY; ARTICLE; BONE DENSITOMETRY; BONE MINERALIZATION; BONE PAIN; BONE RADIOGRAPHY; CASE REPORT; ESTROGEN DEFICIENCY; FOLLOW UP; FRACTURE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; MALE; OSTEOPENIA; OSTEOPOROSIS; PHYSICAL EXAMINATION; PROTEIN DEFICIENCY; SUBSTITUTION THERAPY;

46, XX DISORDERS OF SEX DEVELOPMENT; ADULT; AROMATASE; DNA MUTATIONAL ANALYSIS; ESTRADIOL; ESTROGENS; FAMILY HEALTH; FEMALE; GYNECOMASTIA; HOMOZYGOTE; HUMANS; INFERTILITY, MALE; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; PEDIGREE; RARE DISEASES; SYNDROME;

EID: 84878467612     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/Jcrpe.970     Document Type: Article

References (15)

1. Faustini-Fustini M, Rochira V, Carani C. Oestrogen deficiency in men= where are we today? Eur J Endocrinol 1999;140:111-129.
2. Korach KS. Insights from the study of animals lacking functional estrogen receptor. Science 1994;266:1524-1527.
3. Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 1995;80:3689-3698.
4. Deroo BJ, Korach KS. Estrogen receptors and human diseasec. J Clin Invest 2006;116:561-570.
5. Rochira V, Granata AR, Madeo B, Zirilli L, Rossi G, Carani C. Estrogens in males: what have we learned in the last 10 years? Asian J Androl 2005;7:3-20.
6. Klein KO, Martha PM Jr, Blizzard RM, Herbst T, Rogol AD. A longitudinal assessment of hormonal and physical alterations during normal puberty in boys. II. Estrogen levels as determined by an ultrasensitive bioassay. J Clin Endocrinol Metab 1996;81:3203-3207.
7. Rochira V, Carani C. Aromatase deficiency in men= a clinical perspective. Nat Rev Endocrinol 2009;5:559-568. Epub 2009 Aug 25
8. Carani C, Qin K, Simoni M, Faustini-Fustini M, Serpente S, Boyd J, Korach KS, Simpson ER. Effect of testosterone and estradiol in a man with aromatase deficiency. N Engl J Med 1997;337:91-95.
9. Jones ME, Boon WC, McInnes K, Maffei L, Carani C, Simpson ER. Recognizing rare disorders: aromatase deficiency. Nat Clin Pract Endocrinol Metab 2007;3:414-421.
10. Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS. Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 1994;331:1056-1061.
11. Rochira V, Balestrieri A, Madeo B, Spaggiari A, Carani C. Congenital estrogen deficiency in men= a new syndrome with different phenotypes; clinical and therapeutic implications in men. Mol Cell Endocrinol 2002;193:19-28.
12. Rochira V, Balestrieri A, Faustini-Fustini M, Carani C. Role of estrogen on bone in the human male: insights from the natural models of congenital estrogen deficiency. Mol Cell Endocrinol 2001;178:215-220.
13. Belgorosky A, Pepe C, Marino R, Guercio G, Saraco N, Vaiani E, Rivarola MA. Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene. J Clin Endocrinol Metab 2003;88:5127-5131.
14. Maffei L, Murata Y, Rochira V, Tubert G, Aranda C, Vazquez M, Clyne CD, Davis S, Simpson ER, Carani C. Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment. J Clin Endocrinol Metab 2004;89:61-70.
15. Bilezikian JP, Morishima A, Bell J, Grumbach MM. Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. N Engl J Med 1998;339:599-603.