46XY siblings with inadequate virilization and CNS deficiency

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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
DOIs
StatePublished - Jan 1 1988

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Virilism
Gonadotropins
Intellectual Disability
Siblings
Disorders of Sex Development
Seminiferous Tubules
Chorionic Gonadotropin
Luteinizing Hormone
Karyotype
Androgens
Testosterone
Penis agenesis

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Hoffman, R. P., Steele, M. W., Lee, P., 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. https://doi.org/10.1159/000181004
Hoffman, R. P. ; Steele, M. W. ; Lee, Peter ; Brown, T. R. ; Wenger, S. L. ; Skiba, P. L. / 46XY siblings with inadequate virilization and CNS deficiency. In: Hormone Research. 1988 ; Vol. 29, No. 5-6. pp. 207-210.
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Hoffman, RP, Steele, MW, Lee, P, Brown, TR, Wenger, SL & Skiba, PL 1988, '46XY siblings with inadequate virilization and CNS deficiency', Hormone Research, vol. 29, no. 5-6, pp. 207-210. https://doi.org/10.1159/000181004

46XY siblings with inadequate virilization and CNS deficiency. / Hoffman, R. P.; Steele, M. W.; Lee, Peter; Brown, T. R.; Wenger, S. L.; Skiba, P. L.

In: Hormone Research, Vol. 29, No. 5-6, 01.01.1988, p. 207-210.

Research output: Contribution to journalArticle

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Hoffman RP, Steele MW, Lee P, Brown TR, Wenger SL, Skiba PL. 46XY siblings with inadequate virilization and CNS deficiency. Hormone Research. 1988 Jan 1;29(5-6):207-210. https://doi.org/10.1159/000181004