Short Stature & Other Endocrine Symptoms Of Mucopolysaccharidoses

Dr. Cattoni begins by reviewing the heterogeneity of MPS, caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). He highlights how clinical presentations can range from classical syndromic cases to mild, non-classical forms, making early recognition challenging. A key message is that short stature may be the first—and sometimes only—manifestation prompting specialist evaluation.

He explains that growth impairment in MPS results from joint contractures, kyphosis, disrupted cartilage architecture, growth plate damage, bone remodeling defects, and inflammation. These abnormalities prevent proper standing posture and impede normal skeletal development. Dr. Cattoni provides data from growth charts for various MPS subtypes: MPS I and II often show normal growth in the first two years, followed by a decline, while MPS IV and VI show early and severe height deficits. Pubertal growth spurts are commonly absent.

He emphasizes that pediatric endocrinologists must consider MPS in any child with unexplained short stature, particularly if accompanied by joint stiffness, orthopedic issues, ENT problems, hernias, or surgical history. Radiographic signs—such as bullet-shaped phalanges, delayed carpal bone ossification, or thickened metacarpals—can support suspicion.

Dr. Cattoni reviews the diagnostic algorithm: if skeletal surveys suggest dysostosis multiplex, clinicians should order urinary GAG analysis and enzyme activity assays. He also addresses the controversial role of growth hormone therapy. While its benefit is limited in patients with normal growth hormone secretion, selected cases with growth hormone deficiency may experience improved height velocity and bone mineral density.

Beyond growth, he discusses additional endocrine challenges, including low bone mineral density and premature ovarian insufficiency—particularly in patients who underwent hematopoietic stem cell transplantation. He advises caution with bisphosphonate use and supports managing hormone deficiencies with standard replacement therapies, such as estradiol or testosterone.

The webinar concludes with practical recommendations: maintain a high index of suspicion, rely on disease-specific growth charts when available, and use hand and wrist X-rays judiciously. Pediatric endocrinologists are often the first specialists to encounter undiagnosed MPS, and early recognition is essential to enable timely treatment and improve patient outcomes.

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