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Variable Presentation of X-linked Adrenal Hypoplasia Congenita

  • Esko Wiltshire , J. Jennifer Couper EMAIL logo , Christine Rodda , J. Larry Jameson and John C. Achermann
Published/Copyright: October 11, 2016
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 14 Issue 8

Abstract

We present a family with X-linked adrenal hypoplasia congenita (AHC) due to a truncation mutation in the DAX1 gene. The three patient reports demonstrate variable clinical and biochemical features at presentation. They presented with adrenal crises at 3 years, 4 weeks, and 3 weeks. Mineralocorticoid deficiency preceded glucocorticoid deficiency in patient 3 and an early ultrasound indicated normal sized adrenal tissue. Genetic analysis showed that potential female carriers were unaffected.

Keywords: DAX1; adrenal insufficiency; adrenal hypoplasia congenita; mineralocorticoid
Published Online: 2016-10-11
Published in Print: 2001-9-1

© 2016 by Walter de Gruyter Berlin/Boston

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  1. Titelei
  2. Table of Contents
  3. Doping with Growth Hormone
  4. Intrauterine Diabetic Environment Confers Risks for Type 2 Diabetes Mellitus and Obesity in the Offspring, in Addition to Genetic Susceptibility
  5. Variable Presentation of X-linked Adrenal Hypoplasia Congenita
  6. Sustained Benefits of Growth Hormone on Body Composition, Fat Utilization, Physical Strength and Agility, and Growth in Prader-Willi Syndrome are Dose-Dependent
  7. Insufficient Adrenarche in Patients with Combined Pituitary Hormone Deficiency Caused by a PROP A Gene Defect
  8. Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
  9. 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
  10. Relationships Between Levels of Leptin and Hematological Parameters in Healthy Term Infants
  11. Recombinant Growth Hormone Treatment in Short Patients with Thalassemia Major: Results after 24 and 36 Months
  12. Assessment of the Current Status of Iodine Prophylaxis in Bosnia and Herzegovina Federation
  13. Profiles of Obese Children Presenting for Metabolic Evaluation
  14. Effect of Growth Hormone Treatment on Hypoglycemia in a Patient with both Hepatic Glycogen Synthase and Isolated Growth Hormone Deficiencies
  15. Gliclazide-Induced Hepatitis, Hemiplegia and Dysphasia in a Suicide Attempt
  16. Neonatal Goiter Caused by Expectorant Usage
  17. Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence
  18. Neonatal Hyperthyroidism m Infants of Mothers Previously Thyroidectomized due to Graves’ Disease
  19. Primary Hyperparathyroidism in an Infant with Three Parathyroid Glands and Pulmonary Calcinosis
  20. Asymmetric Crying Facies and Congenital Hypothyroidism: Report of Two Patients
  21. Obituary. Professor Dr. Andrea Prader (1919–2001)
  22. Meetings Calendar
  23. Author Index
https://doi.org/10.1515/jpem-2001-0804
Keywords for this article
DAX1; adrenal insufficiency; adrenal hypoplasia congenita; mineralocorticoid

Articles in the same Issue

  1. Titelei
  2. Table of Contents
  3. Doping with Growth Hormone
  4. Intrauterine Diabetic Environment Confers Risks for Type 2 Diabetes Mellitus and Obesity in the Offspring, in Addition to Genetic Susceptibility
  5. Variable Presentation of X-linked Adrenal Hypoplasia Congenita
  6. Sustained Benefits of Growth Hormone on Body Composition, Fat Utilization, Physical Strength and Agility, and Growth in Prader-Willi Syndrome are Dose-Dependent
  7. Insufficient Adrenarche in Patients with Combined Pituitary Hormone Deficiency Caused by a PROP A Gene Defect
  8. Syndrome of Congenital Adrenocortical Unresponsiveness to ACTH. Report of Six Patients
  9. 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
  10. Relationships Between Levels of Leptin and Hematological Parameters in Healthy Term Infants
  11. Recombinant Growth Hormone Treatment in Short Patients with Thalassemia Major: Results after 24 and 36 Months
  12. Assessment of the Current Status of Iodine Prophylaxis in Bosnia and Herzegovina Federation
  13. Profiles of Obese Children Presenting for Metabolic Evaluation
  14. Effect of Growth Hormone Treatment on Hypoglycemia in a Patient with both Hepatic Glycogen Synthase and Isolated Growth Hormone Deficiencies
  15. Gliclazide-Induced Hepatitis, Hemiplegia and Dysphasia in a Suicide Attempt
  16. Neonatal Goiter Caused by Expectorant Usage
  17. Idiopathic Hypothalamic Dysfunction with Precocious Puberty and Adipsic Hypernatremia First Presenting in Adolescence
  18. Neonatal Hyperthyroidism m Infants of Mothers Previously Thyroidectomized due to Graves’ Disease
  19. Primary Hyperparathyroidism in an Infant with Three Parathyroid Glands and Pulmonary Calcinosis
  20. Asymmetric Crying Facies and Congenital Hypothyroidism: Report of Two Patients
  21. Obituary. Professor Dr. Andrea Prader (1919–2001)
  22. Meetings Calendar
  23. Author Index
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