Pheochromocytoma and Hyporesponsiveness to Thyrotrophin in a 46 XY Male with Features of the Turner Phenotype
Authors: CHARLES E. BECKER
Journal: Annals of Internal Medicine (1969)

Case Studies1 February 1969Pheochromocytoma and Hyporesponsiveness to Thyrotrophin in a 46 XY Male with Features of the Turner PhenotypeCHARLES E. BECKER, M.D., SAUL W. ROSEN, M.D., PH.D., KARL ENGELMAN, M.D.CHARLES E. BECKER, M.D.Search for more papers by this author, SAUL W. ROSEN, M.D., PH.D.Search for more papers by this author, KARL ENGELMAN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-70-2-325 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptA 13-year-old boy with the first reported association of pheochromocytoma with multiple somatic anomalies suggestive of the Turner phenotype and failure of response to thyrotrophin is described. Attention is directed to the increased incidence of thyroidal abnormalities in patients with chromosomal aneuploidy and with pheochromocytoma....References1. TURNER HH: A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology 23: 566, 1938. CrossrefGoogle Scholar2. HADDADWILKINS HML: Congenital anomalies associated with gonadal aplasia. Review of 55 cases. Pediatrics 23: 885, 1959. MedlineGoogle Scholar3. FERGUSON-SMITHALEXANDERBOWENGOODMANKAUFMANNJONESHELLER MADSPRMBNHWRH: Clinical and cytogenetical studies in female gonadal dysgenesis and their bearing on the cause of Turner's syndrome. Cytogenetics 3: 355, 1964. CrossrefMedlineGoogle Scholar4. ENGLEFORBES EAP: Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine (Balt.) 44: 135, 1965. CrossrefMedlineGoogle Scholar5. GREENBLATTBYRDMCDONOUGHMAHESH RBJRPGVB: The spectrum of gonadal dysgenesis. Amer. J. Obstet. Gynec. 98: 151, 1967. CrossrefMedlineGoogle Scholar6. FLAVELL G: Webbing of the neck, with Turner's syndrome in the male. Brit. J. Surg. 31: 150, 1943. CrossrefGoogle Scholar7. CARONMIEHERMELLINGERGREEN PWCRCEW: Turner's syndrome in males. Henry Ford Hosp. Med. Bull. 12: 121, 1964. MedlineGoogle Scholar8. HELLER RH: The Turner phenotype in the male. J. Pediat. 66: 48, 1965. CrossrefMedlineGoogle Scholar9. CHAVES-CARBALLOHAYLES EAB: Ullrich-Turner syndrome in the male: review of the literature and report of a case with lymphocytic (Hashimoto's) thyroiditis. Mayo Clin. Proc. 41: 843, 1966. MedlineGoogle Scholar10. MEYERSONGWINUP LG: Turner's syndrome in the male. Arch. Intern. Med. (Chicago) 116: 125, 1965. CrossrefMedlineGoogle Scholar11. FRACCAROIKKOSLINDSTENLUFTTILLINGER MDJRKG: Testicular germinal dysgenesis (male Turner's syndrome). Report of a case with chromosomal studies and review of the literature. Acta Endocr. (Kobenhavn) 36: 98, 1961. MedlineGoogle Scholar12. FLEISHER DS: Lateral displacement of the nipples. A sign of bilateral renal hypoplasia. J Pediat. 69: 806, 1966. CrossrefMedlineGoogle Scholar13. FEINBERG R: Detection of non-precipitating antibodies coexisting with precipitating antibodies using I131 labelled antigen. Fed. Proc. 13: 493, 1954. Google Scholar14. WILKINSFLEISCHMANN LW: Ovarian agenesis: pathology, associated clinical symptoms and the bearing on the theories of sex differentiation. J. Clin. Endocr. 4: 357, 1944. CrossrefGoogle Scholar15. GRUMBACHVAN WYKWILKINS MMJJL: Chromosomal sex in gonadal dysgenesis (ovarian agenesis): relationship to male pseudohermaphrodism and theories of human sex differentiation. J. Clin. Endocr. 15: 1161, 1955. CrossrefGoogle Scholar16. JONESTURNERFERGUSON-SMITH HWHHMA: Turner's syndrome and phenotype. Lancet 1: 1155, 1966. CrossrefMedlineGoogle Scholar17. WEISSENBERG S: Eine eigentumliche hautfaltenbildung am halse. Anthrop. Anz. 5: 141, 1928. Google Scholar18. FLAVELL G: Personal communication. Google Scholar19. ATRIASANZDONOSO ARS: Necropsy study of a case of Turner's syndrome. J. Clin. Endocr. 8: 397, 1948. CrossrefGoogle Scholar20. MONTES JC: Turner's syndrome with anovarism—case report. J. Clin. Endocr. 12: 947, 1952. Google Scholar21. FREYHOFFMAN HMDL: Gonadal dysgenesis associated with hypothyroidism. Proc. Mayo Clin. 34: 442, 1959. MedlineGoogle Scholar22. DE LA CHAPELLE A: Cytogenetical and clinical observations in female gonadal dysgenesis. Acta Endocr. 65 (suppl.): 1, 1962. Google Scholar23. WILLIAMSENGELFORBES EDEAP: Thyroiditis and gonadal dysgenesis. New Eng. J. Med. 270: 805, 1964. CrossrefMedlineGoogle Scholar24. SPARKESMOTULSKY RSAG: The Turner syndrome with isochromosome X and Hashimoto's thyroiditis. Ann. Intern. Med. 67: 132, 1967. LinkGoogle Scholar25. GRUMBACHMORISHIMA MMA: X-chromosome abnormalities in gonadal dysgenesis: DNA replication of structurally abnormal X-chromosomes; relation to thyroid disease. J. Pediat. 65: 1087, 1964. CrossrefGoogle Scholar26. MILETPLUNKETTCARR RGERDH: Gonadal dysgenesis with XX-isochromosome constitution and abnormal thyroid patterns. Acta Endocr. 54: 609, 1967. MedlineGoogle Scholar27. HENKINBARTTER RIFC: Unpublished data. Google Scholar28. LEWITUS Z: I131 uptake in Turner's syndrome. J. Clin. Endocr. 22: 659, 1962. CrossrefGoogle Scholar29. FUTTERWEITCHAPMANSALVANESCHIMOLOSHOK WMLJPRE: Multiple congenital defects in a twelve year old boy with cryptorchidism—"male Turner's syndrome." Metabolism 10: 1074, 1961. MedlineGoogle Scholar30. FIALKOW PJ: Autoimmunity: a predisposing factor to chromosomal aberrations? Lancet 1: 474, 1964. CrossrefMedlineGoogle Scholar31. FIALKOW PJ: Autoimmunity and chromosomal aberrations. Amer. J. Hum. Genet. 18: 93, 1966. MedlineGoogle Scholar32. FIALKOW PJ: Autoantibodies and chromosomal aberrations. Lancet 1: 1106, 1967. CrossrefGoogle Scholar33. VALLOTTONFORBES MBAP: Autoimmunity in gonadal dysgenessis and Klinefelter's syndrome. Lancet 1: 648, 1967. CrossrefMedlineGoogle Scholar34. FERGUSON-SMITHANDERSONFROLANDGRAY MAJRAKG: Frequency of autoantibodies in patients with chromatin-positive Klinefelter's syndrome and their parents. Lancet 2: 566, 1966. CrossrefMedlineGoogle Scholar35. DAVISCANFIELDHERMANGOLER TECJRHD: Thyroid function in patients with aspermiogenesis and testicular tubular sclerosis. New Eng. J. Med. 268: 178, 1963. CrossrefMedlineGoogle Scholar36. PLUNKETTRANGECROFTHEAGY ERGFC: Thyroid function in patients with sex chromosomal anomalies. J. Ment. Defic. Res. 8: 25, 1964. MedlineGoogle Scholar37. GRANDROSENDISANT'AGNESEKIRKHAM RJSWPAWR: Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly. Amer. J. Med. 41: 478, 1966. CrossrefMedlineGoogle Scholar38. MANNINGMOLNARBLACKPRIESTLEYWOOLNER PCGDBMJTLB: Pheochromocytoma, hyperparathyroidism and thyroid carcinoma occurring coincidentally. Report of a case. New Eng. J. Med. 268: 68, 1963. CrossrefGoogle Scholar39. NOUROK DS: Familial pheochromocytoma and thyroid carcinoma. Ann. Intern. Med. 60: 1028, 1964. LinkGoogle Scholar40. SAPIRAALTMANVANDYKSHAPIRO JDMKAP: Bilateral adrenal pheochromocytoma and medullary thyroid carcinoma. New Eng. J. Med. 273: 140, 1965. CrossrefMedlineGoogle Scholar41. Pheochromocytoma and thyroid cancer (leading article). Brit. Med. J. 2: 549, 1965. CrossrefGoogle Scholar42. LJUNBERGCEDERQUISTVON STUDNITX OEW: Medullary thyroid carcinoma and pheochromocytoma: a familial chromaffinomatosis. Brit. Med. J. 1: 279, 1967. CrossrefMedlineGoogle Scholar43. KHODADOUSTPATON AD: Turner's syndrome in a male. Report of a case with myopia, retinal detachment, cataract and glaucoma. Arch. Ophthal. (Chicago) 77: 630, 1967. CrossrefMedlineGoogle Scholar44. SJOERDSMAENGELMANWALDMANNCOOPERMANHAMMOND AKTALHWG: Pheochromocytoma: current concepts of diagnosis and treatment. Ann. Intern. Med. 65: 1302, 1966. LinkGoogle Scholar45. ENGELMANHORWITZJEQUIERSJOERDSMA KDEA: Biochemical and pharmacologic effects of α-methyltyrosine in man. J. Clin. Invest. 47: 577, 1968. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Bethesda, MarylandFrom the Clinical Endocrinology Branch, National Institute of Arthritis and Metabolic Diseases; and Experimental Therapeutics Branch, National Heart Institute; Bethesda, Md.Requests for reprints should be addressed to Saul W. Rosen, M.D., Clinical Endocrinology Branch, NIAMD, Clinical Center 8N242-NIH, Bethesda, Md. 20014 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byNDuchenne Muscular Dystrophy and Concomitant Metastatic Alveolar RhabdomyosarcomaGenetic Problems of Endocrine SignificanceNongonadal neoplasia in Turners syndrome 1 February 1969Volume 70, Issue 2Page: 325-333KeywordsAneuploidyArthritisChromosomesEndocrinologyHeart diseasesHeart failureMetabolic disordersPhenotypesPheochromocytomaThyroid ePublished: 1 December 2008 Issue Published: 1 February 1969 PDF downloadLoading ...