Genetic and endocrine findings in a 48, xxyy male

Zachary T. Bloomgarden, C. Dawn Delozier, Melinda P. Cohen, Alfred G. Kasselberg, Eric Engel, David Rabin

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Characteristics of a 16-yr-old male with a 48, XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissues studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine, and pathological features of this patient are compared with those found in males with the 47, XXY and 47.XYY syndromes. The 48, XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.

Original languageEnglish
Pages (from-to)740-743
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Issue number4
StatePublished - Apr 1980
Externally publishedYes


Dive into the research topics of 'Genetic and endocrine findings in a 48, xxyy male'. Together they form a unique fingerprint.

Cite this