Subnormal cortisol response to adrenocorticotropin in isolated partial 17,20-lyase deficiency

Esther Leiberman, Eli Hershkovitz, Anna Lauber-Biason, Moshe Phillip, Milo Zachmann

Research output: Contribution to journalArticlepeer-review

Abstract

We describe three male children from a Bedouin clan, two of whom are siblings, who have various degrees of incomplete virilization due to isolated 17,20-lyase deficiency. The patients have low (basal and post ACTH or hCG stimulation) plasma testosterone and androstenedione levels. An abnormally high plasma 17-hydroxy-progesterone concentration was detected. A favorable response following local testosterone administration was seen in two patients. Surprisingly, an unexplained flat cortisol response to ACTH test was also noted. Although no biochemical model can yet adequately explain the impairment in cortisol response to ACTH in these patients, it seems prudent to take this lack of cortisol response into consideration. We therefore recommend hydrocortisone supplement during moderate to severe stress.

Original languageEnglish
Pages (from-to)387-390
Number of pages4
JournalJournal of Pediatric Endocrinology and Metabolism
Volume10
Issue number4
DOIs
StatePublished - 1997
Externally publishedYes

Keywords

  • 17,20-lyase deficiency
  • Adrenocorticotropin
  • Bedouin
  • Cortisol

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