Home An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
Article
Licensed
Unlicensed Requires Authentication

An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?

  • Kung-Ting Kao EMAIL logo and Margaret Zacharin
Published/Copyright: December 17, 2015
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 29 Issue 1

Abstract

Cushing syndrome and lipodystrophy syndromes share similar clinical features. This report describes an adolescent girl with newly diagnosed familial partial lipodystrophy type 2 (FPLD2) who was initially referred for Cushing syndrome. The type of abnormal fat deposition syndrome can be elucidated by careful clinical examination. FPLD2 can lead to type 2 diabetes mellitus and early cardiovascular events. Partial lipodystrophy presenting for the first time in adolescence can be mistaken for corticosteroid excess. Early diagnosis and preventative management of cardiovascular risk factors are crucial.

Keywords: adolescent; Cushing syndrome; insulin resistance; laminopathy; lipodystrophy
Corresponding author: Dr. Kung-Ting Kao, MBChB, Department of Endocrinology and Diabetes, Royal Children’s Hospital, Flemington Road, Parkville, Victoria 3052, Australia, Phone: + 61 3 9345 5951, Fax: + 61 3 9345 6240, E-mail: ; Murdoch Children’s Research Institute, Melbourne, Victoria, Australia; and University of Melbourne, Victoria, Australia

References

1. Garg A. Lipodystrophies. Am J Med 2000;108:143–52.10.1016/S0002-9343(99)00414-3Search in Google Scholar

2. Gupta SK, Dube MP. Exogenous cushing syndrome mimicking human immunodeficiency virus lipodystrophy. Clin Infect Dis 2002;35:69–71.10.1086/342562Search in Google Scholar PubMed

3. Krause JC, Toye MP, Fisher DJ, Stechenberg BW, Reiter EO, et al. Metabolic abnormalities in human immunodeficiency virus-infected children: two-year follow-up. J Pediatr Endocrinol Metab 2009;22:345–51.10.1515/JPEM.2009.22.4.345Search in Google Scholar

4. Savage MO, Storr HL. Fundamental principles of clinical and biochemical evaluation underlie the diagnosis and therapy of Cushing’s syndrome. J Pediatr Endocrinol Metab 2014;27:1029–31.10.1515/jpem-2014-0400Search in Google Scholar PubMed

5. Garg A. Clinical review: Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96:3313–25.10.1210/jc.2011-1159Search in Google Scholar PubMed PubMed Central

6. Gao J, Li Y, Fu X, Luo X. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. J Pediatr Endocrinol Metab 2012;25:375–7.10.1515/jpem-2012-0007Search in Google Scholar PubMed

7. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 2002;70:726–36.10.1086/339274Search in Google Scholar PubMed PubMed Central

8. Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet 2010;78:66–73.10.1111/j.1399-0004.2009.01350.xSearch in Google Scholar PubMed PubMed Central

9. Carboni N, Politano L, Floris M, Mateddu A, Solla E, et al. Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol 2013;32:7–17.Search in Google Scholar

10. Green LN. Progeria with carotid artery aneurysms: report of a case. Arch Neurol 1981;38:659–61.10.1001/archneur.1981.00510100087017Search in Google Scholar PubMed

11. Park JY, Javor ED, Cochran EK, DePaoli AM, Gorden P. Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy. Metabolism 2007;56:508–16.10.1016/j.metabol.2006.11.010Search in Google Scholar PubMed PubMed Central

12. Hughes JM, Stephen C, Johnson AB, Wilson S. Breast augmentation in familial partial lipodystrophy: a case report. J Plast Reconstr Aesthet Surg 2011;64:121–4.10.1016/j.bjps.2011.01.001Search in Google Scholar PubMed

13. Ion L, Raveendran SS. Open neck lipectomy for patients with HIV-related cervical lipohypertrophy. Aesthetic Plast Surg 2011;35:953–9.10.1007/s00266-011-9711-2Search in Google Scholar PubMed

14. Nelson L, Stewart KJ. Experience in the treatment of HIV-associated lipodystrophy. J Plast Reconstr Aesthet Surg 2008;61:366–71.10.1016/j.bjps.2007.10.031Search in Google Scholar PubMed

Received: 2015-6-10
Accepted: 2015-7-6
Published Online: 2015-12-17
Published in Print: 2016-1-1

©2016 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. EDITORIAL
  3. Newborn screening of metabolic disorders
  4. Current and future perspective of newborn screening: an Indian scenario
  5. Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
  6. Leptin and neuropeptide Y levels in newborns
  7. Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
  8. Adipokines in umbilical cord blood from children born large for gestational age
  9. REVIEW
  10. Diabetes insipidus in children
  11. ORIGINAL ARTICLES
  12. Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
  13. The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
  14. Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
  15. Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
  16. The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
  17. Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
  18. CASE REPORTS
  19. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
  20. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
  21. Prepubertal gynecomastia and chronic lavender exposure: report of three cases
  22. An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
https://doi.org/10.1515/jpem-2015-0231
Keywords for this article
adolescent; Cushing syndrome; insulin resistance; laminopathy; lipodystrophy

Articles in the same Issue

  1. Frontmatter
  2. EDITORIAL
  3. Newborn screening of metabolic disorders
  4. Current and future perspective of newborn screening: an Indian scenario
  5. Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment
  6. Leptin and neuropeptide Y levels in newborns
  7. Markers of bone metabolism, serum leptin levels and bone mineral density in preterm babies
  8. Adipokines in umbilical cord blood from children born large for gestational age
  9. REVIEW
  10. Diabetes insipidus in children
  11. ORIGINAL ARTICLES
  12. Essential oils reduce autonomous response to pain sensation during self-monitoring of blood glucose among children with diabetes
  13. The prevalence of melanocortin-4 receptor gene mutations in Slovak obese children and adolescents
  14. Physical activity does not attenuate the relationship between daily cortisol and metabolic syndrome in obese youth
  15. Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism
  16. The effect of tamoxifen on pubertal bone development in adolescents with pubertal gynecomastia
  17. Effects of methylphenidate on appetite and growth in children diagnosed with attention deficit and hyperactivity disorder
  18. CASE REPORTS
  19. An unusual case of hereditary nephrogenic diabetes insipidus (HNDI) affecting mother and daughter
  20. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome and celiac disease in a 13-year-old girl: further evidence for autoimmunity?
  21. Prepubertal gynecomastia and chronic lavender exposure: report of three cases
  22. An adolescent girl referred with Cushing syndrome – does she or does she not have the syndrome?
Sign up now to receive a 20% welcome discount
Institutional Access
How does access work?
Have an idea on how to improve our website?
Please write us.
© 2025 De Gruyter Brill
Downloaded on 11.9.2025 from https://www.degruyterbrill.com/document/doi/10.1515/jpem-2015-0231/html
Scroll to top button