A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: Mosaicism versus chimerism

R. H. Reindollar, J. R. Byrd, D. H. Hahn, F. P. Haseltine, P. G. McDonough

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Newborn monozygotic twins with phenotypic sexual discordance were diagnosed with 45,X/46,XY gonadal dysgenesis. Cytogenetic studies of peripheral blood (serial), skin, and gonad were performed. Serial comparative gonadotropin data and luteinizing hormone-releasing hormone stimulation tests were obtained. A phenotypically normal male twin was found to have a significant number of 45,X cells only in lymphocytes and was considered endocrinologically intact. The sexually ambiguous twin sister demonstrated a significant number of 45,X cell lines in all tissues and was considered endocrinologically agonadal. These data demonstrate the role of the 45,X karyotype on abnormal gonadal formation and function and make possible different etiologies for the 45,X cell line in both twins. While mosaicism is likely for both, chimerism is possible for the normal male.

Original languageEnglish (US)
Pages (from-to)626-633
Number of pages8
JournalFertility and sterility
Volume47
Issue number4
StatePublished - Jan 1 1987

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Chimerism
Mosaicism
Cytogenetics
46,XY Gonadal Dysgenesis
Abnormal Karyotype
Cell Line
Monozygotic Twins
Gonads
Gonadotropins
Gonadotropin-Releasing Hormone
Siblings
Newborn Infant
Lymphocytes
Skin

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology

Cite this

A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex : Mosaicism versus chimerism. / Reindollar, R. H.; Byrd, J. R.; Hahn, D. H.; Haseltine, F. P.; McDonough, P. G.

In: Fertility and sterility, Vol. 47, No. 4, 01.01.1987, p. 626-633.

Research output: Contribution to journalArticle

Reindollar, R. H. ; Byrd, J. R. ; Hahn, D. H. ; Haseltine, F. P. ; McDonough, P. G. / A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex : Mosaicism versus chimerism. In: Fertility and sterility. 1987 ; Vol. 47, No. 4. pp. 626-633.
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