Journal article
Maroteaux-Lamy syndrome associated with growth hormone deficiency
Journal of pediatric endocrinology & metabolism : JPEM, Vol.8(4), pp.305-308
10/01/1995
DOI: 10.1515/JPEM.1995.8.4.305
PMID: 8821911
Abstract
Growth retardation is a common feature of mucopolysaccharide storage disorders, mostly considered to be a consequence of skeletal changes, Maroteaux-Lamy disease is a subtype of mucopolysaccharidosis, demonstrating somatic changes and skeletal deformities. We present a case with Maroteaux-Lamy disease associated with growth hormone deficiency. Magnetic resonance imaging study revealed marked signal changes in white matter due to the storage in brain and empty sella appearance in sellar region. In the presence of empty sella syndrome, hypothalamic-pituitary dysfunction due to the storage material may have led to growth hormone deficiency in this patient. Therefore, we recommend patients with mucopolysaccharidosis, especially those who have growth retardation, to be evaluated by hormonal and radiological studies.
Details
- Title: Subtitle
- Maroteaux-Lamy syndrome associated with growth hormone deficiency
- Creators
- B Büyükgebiz - Dokuz Eylül UniversityY EroğluI KovanlikayaA SenA Büyükgebiz
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric endocrinology & metabolism : JPEM, Vol.8(4), pp.305-308
- DOI
- 10.1515/JPEM.1995.8.4.305
- PMID
- 8821911
- ISSN
- 0334-018X
- eISSN
- 2191-0251
- Language
- English
- Date published
- 10/01/1995
- Academic Unit
- Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
- Record Identifier
- 9984694753202771
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