Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH

Tomohiro Ishii, Tsutomu Ogata, Goro Sasaki, Seiji Sato, Ei Ichi Kinoshita, Nobutake Matsuo

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We report a 30-year-old female with adrenal unresponsiveness to ACTH. Her clinical features included no adrenal crisis despite poor drug compliance, poor pubic hair development (Tanner stage 2), well-developed breasts (Tanner stage 5), and regular menstrual cycles. Endocrinological data included blood ACTH 1500pmol/l, cortisol 18nmol/l, dehydroepiandrosterone sulphate below 0.26μmol/l, activated renin 0.37 pmol/l, and aldosterone 3.4 nmol/l. Direct sequencing and allele-specific amplification revealed two novel mutations in the ACTH receptor gene. One was transition from guanine to adenine at nucleotide position 1002, resulting in substitution of aspartate for asparagine at codon 103, and the other was transition from cytosine to thymine at nucleotide 1104, leading to substitution of arginine for tryptophan at codon 137. The present findings lend additional credence to the notions that adrenal androgens play an important role in female pubic hair development and that ovarian development takes place independently of adrenarche.

Original languageEnglish
Pages (from-to)389-392
Number of pages4
JournalClinical Endocrinology
Issue number3
Publication statusPublished - 2000 Oct 2


ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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