Treatment of central precocious puberty and early puberty with GnRH analog in girls with Williams-Beuren syndrome

Spielmann, S; Partsch, C. J.; Gosch, Angela; Pankau, R.

doi:10.1515/jpem-2014-0393

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…64 A gonadotropin-releasing hormone agonist may be used to treat early puberty; treatment in girls successfully delays menarche and results in taller height compared with controls. 65 Abnormal glucose tolerance test results have been documented in 60% to 75% of adults with WS with an increased prevalence of type 2 diabetes mellitus. 66,67 An oral glucose tolerance test is recommended at 30 years of age and should be repeated every 5 years if results are normal.…”

Section: Endocrinementioning

confidence: 99%

Health Care Supervision for Children With Williams Syndrome

Morris

Braddock

2020

Pediatrics

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This set of recommendations is designed to assist the pediatrician in caring for children with Williams syndrome (WS) who were diagnosed by using clinical features and with chromosome 7 microdeletion confirmed by fluorescence in situ hybridization, chromosome microarray, or multiplex ligation-dependent probe amplification. The recommendations in this report reflect review of the current literature, including previously peer-reviewed and published management suggestions for WS, as well as the consensus of physicians and psychologists with expertise in the care of individuals with WS. These general recommendations for the syndrome do not replace individualized medical assessment and treatment. Williams syndrome (WS), also known as Williams-Beuren syndrome, is caused by a deletion of part of chromosome 7 and is a multisystem disorder that was first identified as a distinct clinical entity in 1961. 1 It is present at birth with a prevalence of 1 in 7500 2 and affects boys and girls equally. Children with WS usually come to the attention of pediatricians during infancy or early childhood. WS is characterized by dysmorphic facies (100%), cardiovascular disease (80%; most commonly supravalvular aortic stenosis [SVAS]), intellectual disability (75%), a characteristic cognitive profile (90%), and idiopathic hypercalcemia (15% to 45%). 1,3-7 The deleted portion of chromosome 7q11.23 seen in WS is 1.5 to 1.8 Mb and contains 26 to 28 genes. 3,4,8 It includes the ELN gene that codes for the structural protein elastin, which is an important component of the elastic fibers found in the connective tissue of many organs. The ELN deletion explains some of the characteristics of WS, such as some of the facial features, hoarse voice, inguinal hernia, bladder and bowel diverticula, cardiovascular disease, and orthopedic problems. The pathogenesis of other characteristics, such as intellectual disability, is likely attributable to deletion of contiguous genes in the region. Most deletions in the WS region are de novo. Affected individuals have a 50% chance of transmitting the deletion to offspring. A specific inversion

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Section: Endocrinementioning

confidence: 99%

Health Care Supervision for Children With Williams Syndrome

Morris

Braddock

2020

Pediatrics

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“…However, delaying puberty with gonadotropin-releasing hormones allows a longer period of statural growth, although still below family expectations (Spielmann, Partsch, Gosch, & Pankau, 2015). Limbs may be shorter compared with height.…”

Section: Growth In Williams (Williams-beuren) Syndrome Paige Kaplanmentioning

confidence: 99%

The proceedings of the 15th professional conference on Williams Syndrome

Walton

Martens

Pober

2017

American J of Med Genetics Pt A

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Williams Syndrome (WS) is a contiguous gene deletion disorder, caused by the deletion of approximately 26-28 genes from chromosome 7 (7q11.23). Individuals with WS have complex medical, developmental, and behavioral features, requiring multidisciplinary and interdisciplinary collaboration. Guidelines detailing the identification, evaluation, and monitoring of individuals with WS need clarification, especially for primary care providers who are first-line in their management. This report summarizes the proceedings of the 2016 Professional Conference on WS in Columbus, OH. Presentations were directed towards primary care providers and subspecialists, emphasizing evidence-based practices for treating the prevalent medical and behavioral features of WS. Included in this report are findings from a panel of cardiovascular experts discussing three case studies on treatment of hypertension and the use of sedation or anesthesia for non-cardiac procedures. Abstracts from individual expert presenters are included, covering various medical and behavioral topics, and providing updates in management of WS individuals. The following topics were discussed: differences in phenotypes of 7q11.23 deletion versus duplication, growth parameters, endocrine concerns, sleep difficulties, behaviors to monitor, and pharmacological options, the neurodevelopmental profile of WS individuals, and the importance of monitoring medical and behavioral concerns as WS individuals transition to adulthood.

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