Pituitary function studies in a case of mild Hunter's syndrome (MPS IIB).

Nelson, J; Carson, Dennis

doi:10.1136/jmg.26.11.731

Cited by 7 publications

(4 citation statements)

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“…We have found that hearing loss as previously described [2] , [26] is nearly universal. Short stature and joint contractures occur in most patients and appear to worsen with age [1] , [2] , [27] . Hydrocephalus occurs in 20% of attenuated patients; perhaps less than in severe patients, but nevertheless a considerable risk for these patients.…”

Section: Discussionmentioning

confidence: 99%

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

Shapiro

Rudser

Ahmed

et al. 2016

Molecular Genetics and Metabolism Reports

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ObjectivesThe behavioral, adaptive and quality of life characteristics of attenuated mucopolysaccharidosis type II (MPS II) have not been well studied. Understanding changes over time in the attenuated phenotype may assist in helping achieve better outcomes in long-term function. This longitudinal study investigates these outcomes in relation to age, somatic disease burden, and IQ. Specifically, somatic disease burden is a major challenge for these patients, even with treatment with enzyme replacement therapy.Methods15 patients, 10 between ages 6 and < 12 and 5 between ages ≥ 12 and 18, were selected who had at least 2 yearly visits. The occurrence of physical signs, the Physical Symptom Score, and IQ in these two groups was studied as well as the longitudinal association of age with standardized measures of quality of life, adaptive function, and behavioral symptoms as rated by parents and the child's self-report. Slopes by age across and within patients were calculated for these measures.ResultsAll but one child had hearing loss, most had joint contractures and short stature. Somatic disease burden increased with age. IQ, although normal for most, also improved with age in those under 12 years of age. Physical quality of life decreased while psychosocial quality of life increased with age. Although other adaptive skills were in the broad average range, daily living skills were low at baseline relative to normative data and decreased over time. Behavior ratings indicated improvement in attention and hyperactivity over time. No patient had severe psychopathology, but older children reported an increasing sense of inadequacy and low self-esteem on self-report, presumably due to increasing awareness of differences from peers over time.ConclusionsAttenuated MPS II patients have increasing somatic disease burden and poor physical quality of life as they develop as well as decreasing self-esteem and sense of adequacy. Psychosocial quality of life, adaptive skills, and attention improve. Recognition of and intervention around these issues will be beneficial to MPS II attenuated patients who have the resources to use such assistance to improve their long-term outcomes.

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Section: Discussionmentioning

confidence: 99%

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

Shapiro

Rudser

Ahmed

et al. 2016

Molecular Genetics and Metabolism Reports

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“…An absent response to L-dopa was found in the oldest brother. Nelson and Carson reported on one 13-year-old patient who was shown to have an intact GH, adrenal, thyroidal, and gonadal axis response to standard provocative testing [1]. …”

Section: Discussionmentioning

confidence: 99%

“…Few reports have evaluated growth hormone (GH) function in Hunter syndrome and among those, the GH axis has typically been found to be intact [1, 2]. The ultimate cause of short stature in most cases of Hunter syndrome remains largely unknown; however, it is believed to involve osseous growth plate disturbances [3].…”

Section: Introductionmentioning

confidence: 99%

Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

Nour

Luca

Stephure

et al. 2016

Case Reports in Pediatrics

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Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised. Patient 2, a 13-year-old male with Hunter syndrome, was evaluated for growth failure. He had a large empty sella turcica with posteriorly displaced pituitary. Functional endocrine testing was normal and a trial of GH-treatment yielded no significant effect. Panhypopituitarism associated with pituitary anomalies has not been previously reported in Hunter syndrome and was an incidental finding of significant clinical importance. In the setting of documented anterior hypopituitarism, while hormone replacement improved growth velocity, final height remained impaired. In patient 2 with equivocal GH-testing results, treatment had no effect on linear growth. These cases highlight the importance of careful clinical assessment in Hunter syndrome and that judicious hormone replacement may be indicated in individual cases.

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“…Endocrine abnormalities in the hypothalamic-pituitary-growth hormone (GH)/insulin-like growth (IGF) factor axis have been reported in rare cases of MPS disease [2,32], although GH has also been documented as normal in isolated cases [21]. Precocious puberty has been noted in several MPS III patients [5], but pubertal delay or abnormality of the hypothalamic-pituitary-gonadal axis has not been reported in an MPS disease.…”

Section: Discussionmentioning

confidence: 99%

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

Decker

Giugliani

et al. 2010

Journal of Pediatric Rehabilitation Medicine

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Background and Methods: Growth failure is characteristic of untreated mucopolysaccharidosis type VI (MPS VI: Maroteaux-Lamy syndrome). Growth was studied in fifty-six MPS VI patients (5 to 29 years old) prior to and for up to 240 weeks of weekly infusions of recombinant human arylsulfatase B (rhASB) at 1 mg/kg during Phase 1/2, Phase 2, Phase 3 or Phase 3 Extension clinical trials. Height, weight, and Tanner stage data were collected. Pooled data were analyzed to determine mean height increase by treatment week, growth impacts of pubertal status, baseline urinary GAG, and age at treatment initiation. Growth rate for approximately 2 years prior to and following treatment initiation was analyzed using longitudinal modeling. Results: Mean height increased by 2.9 cm after 48 weeks and 4.3 cm after 96 weeks on enzyme replacement therapy (ERT). Growth on ERT was not correlated with baseline urinary GAG. Patients under 16~years of age showed greatest increases in height on treatment. Model results based on pooled data showed significant improvement in growth rate during 96~weeks of ERT when compared to the equivalent pretreatment time period. Delayed pubertal onset or progression was noted in 10 patients entering the clinical trials; all of whom showed progression of at least one Tanner stage during 2 years on ERT, and 6 of whom (60%) completed puberty. Conclusion: Analysis of mean height by treatment week and longitudinal modeling demonstrate significant increase in height and growth rate in MPS VI patients receiving long-term ERT. This impact was greatest in patients aged below 16 years. Height increase may result from bone growth and/or reduction in joint contractures. Bone growth and resolution of delayed puberty may be related to improvements in general health, bone cell health, nutrition, endocrine gland function and reduced inflammation.

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Pituitary function studies in a case of mild Hunter's syndrome (MPS IIB).

Abstract: --m m FIGURE Note the slightly coarse facialfeatures, limitation of elbow extension, slight genu valgum, and typical clawing of the hands.

Cited by 7 publications

References 5 publications

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II

Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

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