Syndrome of alopecia totalis and 17b-hydroxysteroid dehydrogenase deficiency

Arieh Kauschansky*, Mordechai Shohat, Moshe Frydman, Ariel Rösler, Eyal Greenbaum, Lea Sirota

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


A distinct and previously undescribed syndrome of alopecia totalis, ichthyosis, and male pseudohermaphroditism due to steroid 17b-hydroxysteroid dehydrogenase deficiency was observed in an Israeli-Arab newborn infant.

Original languageEnglish
Pages (from-to)28-31
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 26 Feb 1998


  • 17bHSD deficiency
  • Alopecia
  • Hypogonadism


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