Abstract
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 language | English |
|---|---|
| Pages (from-to) | 389-392 |
| Number of pages | 4 |
| Journal | Clinical Endocrinology |
| Volume | 53 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2000 |
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ASJC Scopus subject areas
- Endocrinology
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Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. / Ishii, Tomohiro; Ogata, Tsutomu; Sasaki, Goro; Sato, Seiji; Kinoshita, Ei Ichi; Matsuo, Nobutake.
In: Clinical Endocrinology, Vol. 53, No. 3, 2000, p. 389-392.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH
AU - Ishii, Tomohiro
AU - Ogata, Tsutomu
AU - Sasaki, Goro
AU - Sato, Seiji
AU - Kinoshita, Ei Ichi
AU - Matsuo, Nobutake
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
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U2 - 10.1046/j.1365-2265.2000.01040.x
DO - 10.1046/j.1365-2265.2000.01040.x
M3 - Article
VL - 53
SP - 389
EP - 392
JO - Clinical Endocrinology
JF - Clinical Endocrinology
SN - 0300-0664
IS - 3
ER -