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Hypothalamic-pituitary dysfunction in Sturge–Weber syndrome: case report and review of the literature

  • Somar A. Hadid EMAIL logo , Laila Noor , Tamar Baer , Ronald I. Jacobson and Erika Brutsaert
Published/Copyright: November 27, 2023
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 1

Abstract

Objectives

Sturge–Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus.

Case presentation

A 20-year-old male with SWS with epilepsy and Klippel–Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits.

Conclusions

This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.

Keywords: Sturge–Weber syndrome; hypogonadotropic hypogonadism; central hypothyroidism; growth hormone deficiency; hypothalamic-pituitary axis
Corresponding author: Somar A. Hadid, School of Medicine, New York Medical College, Valhalla, NY, USA, E-mail:

  1. Research ethics: The local Institutional Review Board deemed the study exempt from review.

  2. Informed consent: Informed consent was obtained from all individuals included in this study.

  3. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  4. Competing interests: Authors state no conflict of interest.

  5. Research funding: None declared.

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Received: 2023-09-14
Accepted: 2023-11-08
Published Online: 2023-11-27
Published in Print: 2024-01-29

© 2023 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Frontmatter
  2. Mini Review
  3. Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty
  4. Original Articles
  5. Very elevated serum copeptin concentrations occur in a subset of healthy children in the minutes after phlebotomy
  6. Efficacy and safety of leuprorelin 3-month depot (11.25 mg) for idiopathic central precocious puberty treatment of Chinese girls: a single-center retrospective study
  7. MicroRNA-29a and microRNA-122 expressions and other inflammatory markers among obese children with diabetes
  8. Health related quality of life is associated with gastroesophageal reflux symptoms in overweight children
  9. Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
  10. Gender-related differences in cardiometabolic risk factors and oxidative stress among prepubertal children with obesity
  11. Recurrence and survival for patients with thyroid carcinoma in the pediatric age group in the Emirate of Abu Dhabi: retrospective analysis of a multicentre cohort
  12. Longitudinal assessment of auxological parameters, adult height outcome and its determinants in leuprolide-treated Indian girls with idiopathic central precocious puberty
  13. Ambulatory blood pressure monitorisation in children with recombinant growth hormone treatment
  14. Letrozole combined with rhGH treatment increases the adult height of short pubertal boys
  15. Case Reports
  16. Hypothalamic-pituitary dysfunction in Sturge–Weber syndrome: case report and review of the literature
  17. Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion
https://doi.org/10.1515/jpem-2023-0408
Keywords for this article
Sturge–Weber syndrome; hypogonadotropic hypogonadism; central hypothyroidism; growth hormone deficiency; hypothalamic-pituitary axis

Articles in the same Issue

  1. Frontmatter
  2. Mini Review
  3. Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty
  4. Original Articles
  5. Very elevated serum copeptin concentrations occur in a subset of healthy children in the minutes after phlebotomy
  6. Efficacy and safety of leuprorelin 3-month depot (11.25 mg) for idiopathic central precocious puberty treatment of Chinese girls: a single-center retrospective study
  7. MicroRNA-29a and microRNA-122 expressions and other inflammatory markers among obese children with diabetes
  8. Health related quality of life is associated with gastroesophageal reflux symptoms in overweight children
  9. Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form
  10. Gender-related differences in cardiometabolic risk factors and oxidative stress among prepubertal children with obesity
  11. Recurrence and survival for patients with thyroid carcinoma in the pediatric age group in the Emirate of Abu Dhabi: retrospective analysis of a multicentre cohort
  12. Longitudinal assessment of auxological parameters, adult height outcome and its determinants in leuprolide-treated Indian girls with idiopathic central precocious puberty
  13. Ambulatory blood pressure monitorisation in children with recombinant growth hormone treatment
  14. Letrozole combined with rhGH treatment increases the adult height of short pubertal boys
  15. Case Reports
  16. Hypothalamic-pituitary dysfunction in Sturge–Weber syndrome: case report and review of the literature
  17. Intrafamilial phenotypic heterogeneity in siblings with pseudohypoparathyroidism 1B due to maternal STX16 deletion
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