Insufficient Adrenarche in Patients with Combined Pituitary Hormone Deficiency Caused by a PROP A Gene Defect
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A. Voutetakis
Abstract
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 corticotropinreleasing 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/1, 4.5 ±1.7 μmol/1 and 0.26 ± 0.36 μmol/1, respectively. The corresponding post-CRH peak values were 584 ± 204 μmol/1, 12.7 ± 3.9 μmol/1 and 0.43 ± 0.41 μmol/1. In the fifth patient, basal ACTH, cortisol and DHEAS values? were 4 μmol/1, 411 μmol/1, and 2.33 μmol/1, 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 involved, patients with CPHD caused by a PROP-1 gene defect also have insufficient adrenarche. This finding has possible important pathophysiological implications.
© 2016 by Walter de Gruyter Berlin/Boston
Artikel in diesem Heft
- Titelei
- Table of Contents
- Doping with Growth Hormone
- Intrauterine Diabetic Environment Confers Risks for Type 2 Diabetes Mellitus and Obesity in the Offspring, in Addition to Genetic Susceptibility
- Variable Presentation of X-linked Adrenal Hypoplasia Congenita
- Sustained Benefits of Growth Hormone on Body Composition, Fat Utilization, Physical Strength and Agility, and Growth in Prader-Willi Syndrome are Dose-Dependent
- Insufficient Adrenarche in Patients with Combined Pituitary Hormone Deficiency Caused by a PROP A Gene Defect
- Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
- Maternal and Fetal Serum Insulin-like Growth Factor-I (IGF-I), IGF Binding Protein-3 (IGFBP-3), Leptin Levels and Early Postnatal Growth in Infants Born Asymmetrically Small for Gestational Age
- Relationships Between Levels of Leptin and Hematological Parameters in Healthy Term Infants
- Recombinant Growth Hormone Treatment in Short Patients with Thalassemia Major: Results after 24 and 36 Months
- Assessment of the Current Status of Iodine Prophylaxis in Bosnia and Herzegovina Federation
- Profiles of Obese Children Presenting for Metabolic Evaluation
- Effect of Growth Hormone Treatment on Hypoglycemia in a Patient with both Hepatic Glycogen Synthase and Isolated Growth Hormone Deficiencies
- Gliclazide-Induced Hepatitis, Hemiplegia and Dysphasia in a Suicide Attempt
- Neonatal Goiter Caused by Expectorant Usage
- Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence
- Neonatal Hyperthyroidism m Infants of Mothers Previously Thyroidectomized due to Graves’ Disease
- Primary Hyperparathyroidism in an Infant with Three Parathyroid Glands and Pulmonary Calcinosis
- Asymmetric Crying Facies and Congenital Hypothyroidism: Report of Two Patients
- Obituary. Professor Dr. Andrea Prader (1919–2001)
- Meetings Calendar
- Author Index
Artikel in diesem Heft
- Titelei
- Table of Contents
- Doping with Growth Hormone
- Intrauterine Diabetic Environment Confers Risks for Type 2 Diabetes Mellitus and Obesity in the Offspring, in Addition to Genetic Susceptibility
- Variable Presentation of X-linked Adrenal Hypoplasia Congenita
- Sustained Benefits of Growth Hormone on Body Composition, Fat Utilization, Physical Strength and Agility, and Growth in Prader-Willi Syndrome are Dose-Dependent
- Insufficient Adrenarche in Patients with Combined Pituitary Hormone Deficiency Caused by a PROP A Gene Defect
- Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
- Maternal and Fetal Serum Insulin-like Growth Factor-I (IGF-I), IGF Binding Protein-3 (IGFBP-3), Leptin Levels and Early Postnatal Growth in Infants Born Asymmetrically Small for Gestational Age
- Relationships Between Levels of Leptin and Hematological Parameters in Healthy Term Infants
- Recombinant Growth Hormone Treatment in Short Patients with Thalassemia Major: Results after 24 and 36 Months
- Assessment of the Current Status of Iodine Prophylaxis in Bosnia and Herzegovina Federation
- Profiles of Obese Children Presenting for Metabolic Evaluation
- Effect of Growth Hormone Treatment on Hypoglycemia in a Patient with both Hepatic Glycogen Synthase and Isolated Growth Hormone Deficiencies
- Gliclazide-Induced Hepatitis, Hemiplegia and Dysphasia in a Suicide Attempt
- Neonatal Goiter Caused by Expectorant Usage
- Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence
- Neonatal Hyperthyroidism m Infants of Mothers Previously Thyroidectomized due to Graves’ Disease
- Primary Hyperparathyroidism in an Infant with Three Parathyroid Glands and Pulmonary Calcinosis
- Asymmetric Crying Facies and Congenital Hypothyroidism: Report of Two Patients
- Obituary. Professor Dr. Andrea Prader (1919–2001)
- Meetings Calendar
- Author Index
