46XY siblings with inadequate virilization and CNS deficiency

R. P. Hoffman, M. W. Steele, P. A. Lee, T. R. Brown, S. L. Wenger, P. L. Skiba

Research output: Contribution to journalArticle

Abstract

Familial expression of inadequate virilization of 46XY siblings is often reported as an isolated anomaly. We recently evaluated two families with 2 siblings who had a 46XY karyotype, ambiguous genitalia or micropenis, facial anomalies and mental retardation. There is no evidence of gonadotropin deficiency, defects of steroidogenesis, or androgen insensitivity. While there was a testosterone response to human chorionic gonadotropin stimulation in all 3 tested, gonadotropin levels were elevated in 2 of the infants suggestive of faulty seminiferous tubules, 1 of whom later had elevated luteinizing hormone levels. These kindreds may represent a new syndrome with either an X-linked recessive or sex-limited autosomal dominant form of inheritance, with partial testicular failure, multiple congenital anomalies, and mental retardation.

Original languageEnglish (US)
Pages (from-to)207-210
Number of pages4
JournalHormone Research
Volume29
Issue number5-6
Publication statusPublished - 1988
Externally publishedYes

    Fingerprint

ASJC Scopus subject areas

  • Endocrinology

Cite this

Hoffman, R. P., Steele, M. W., Lee, P. A., Brown, T. R., Wenger, S. L., & Skiba, P. L. (1988). 46XY siblings with inadequate virilization and CNS deficiency. Hormone Research, 29(5-6), 207-210.