Insufficient adrenarche in patients with combined pituitary hormone deficiency caused by a PROP-1 gene defect.
Adrenarche was evaluated in five patients, aged 17.4 +/- 3 years, with combined pituitary hormone deficiency (CPHD), caused by a PROP-1 gene defect. Adrenocorticotrophic hormone (ACTH), cortisol and dehydroepiandrosterone sulfate (DHEAS) were determined prior to and following the administration of corticotropin-releasing hormone (CRH) in four of the five patients, while only basal values of ACTH, cortisol and DHEAS were determined in the fifth. In the four patients in whom a CRH test was carried out, the mean basal values of cortisol, ACTH and DHEAS were 289 +/- 140 nmol/l, 4.5 +/- 1.7 pmol/l and 0.26 +/- 0.36 micromol/l, respectively. The corresponding post-CRH peak values were 584 +/- 204 nmol/l, 12.7 +/- 3.9 pmol/l and 0.43 +/- 0.41 micromol/l. In the fifth patient, basal ACTH, cortisol and DHEAS values were 4 pmol/l, 411 nmol/l, and 2.33 micromol/l, respectively. Thus the basal and post CRH values of DHEAS (a marker of adrenarche) were low for age, while basal and post-CRH cortisol and ACTH values were within normal limits. For the interpretation of these findings two hypotheses can be proposed: 1) The PROP-1 gene is only expressed in the pituitary, and the role of PROP-1 is related to the maturation of the cells which synthesize the presumed adrenal androgen stimulating hormone (AASH). 2) The PROP-1 gene is also expressed in the adrenal cortex and, when defective, the zona reticularis does not function appropriately. Regardless of the interpretation
Voutetakis
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A
First Pediatric Department, Athens University Medical School, Aghia Sophia Children's Hospital, Greece. voutetakis@yahoo.com
Livadas
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Sertedaki
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A
Maniati-Christidi
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Dacou-Voutetakis
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C
D000293:Adolescent; D000302:Adrenal Cortex / Q000378:metabolism; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D003346:Corticotropin-Releasing Hormone; D003687:Dehydroepiandrosterone / Q000097:blood; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D005260:Female; D015870:Gene Expression; D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D008297:Male; D009154:Mutation; D010902:Pituitary Gland / Q000378:metabolism; D010907:Pituitary Hormones / Q000172:deficiency*; D011627:Puberty; D015385:Zona Reticularis / Q000503:physiopathology*
D018398:Homeodomain Proteins; D010907:Pituitary Hormones; C102134:Prophet of Pit-1 protein; D003687:Dehydroepiandrosterone; D019314:Dehydroepiandrosterone Sulfate; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone; D006854:Hydrocortisone