Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome

Sharkia, Mohamad; Michaud, Sophie; Berthier, Marie-Thérèse; Giguère, Yves; Stewart, Laura; Deladoëy, Johnny; Deal, Cheri; Vliet, Guy Van; Chanoine, Jean‐Pierre

doi:10.1016/j.jpeds.2013.03.058

Cited by 32 publications

(31 citation statements)

References 26 publications

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“…There are various reports on the prevalence of hypothyroidism in patients in PWS (Table ). Some studies report a prevalence as high as 20–30% (Tauber et al, ), while others have reported a rate of only 2–4% of the PWS population (Butler et al, ; Sharkia et al, ); the latter is not significantly different from healthy controls or the general population. Based on low T4 and fT4 in the presence of normal TSH, one study reported a prevalence of 72.2% of central hypothyroidism in children with PWS aged less than 2 years (Vaiani et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…However, whether hypothyroidism, particularly central hypothyroidism, is present in PWS remains unclear. Published data on disorders of thyroid function in pediatric patients with PWS are very limited (Butler, Theodoro, & Skouse, 2007;Sharkia et al, 2013;Tauber et al, 2000). This is an important question, as untreated hypothyroidism in early childhood can lead to cognitive disability, hypotonia, and failure to thrive.…”

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confidence: 99%

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Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

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Murakami

Matsubara

et al. 2020

American J of Med Genetics Pt A

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It is unclear whether hypothyroidism is present in patients with Prader–Willi syndrome (PWS). This study aimed to clarify the state of the hypothalamic–pituitary–thyroid axis and the effects of growth hormone (GH) treatment on thyroid function in pediatric patients with PWS. We retrospectively evaluated thyroid function in 51 patients with PWS before GH treatment using a thyroid‐releasing hormone (TRH) stimulation test (29 males and 22 females; median age, 22 months). We also evaluated the effect of GH therapy on thyroid function by comparing serum free triiodothyronine (fT3), free thyroxine (fT4), and thyroid stimulating hormone (TSH) levels at baseline, 1 year, and 2 years after GH therapy. TSH, fT4, and fT3 levels were 2.28 μU/ml (interquartile range [IQR]; 1.19–3.61), 1.18 ng/dl (IQR; 1.02–1.24), and 4.02 pg/dl (IQR; 3.54–4.40) at baseline, respectively. In 49 of 51 patients, the TSH response to TRH administration showed a physiologically normal pattern; in two patients (4.0%), the pattern suggested hypothalamic hypothyroidism (delayed and prolonged TSH peak after TRH administration). TSH, fT4, and fT3 levels did not change significantly during 1 or 2 years after GH treatment. The TSH response to TRH showed a normal pattern in most patients, and thyroid function did not change significantly during the 2 years after initiating GH treatment.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

Oto

Murakami

Matsubara

et al. 2020

American J of Med Genetics Pt A

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show abstract

“…Patients with PWS have abnormalities of the hypothalamicpituitary axis, as demonstrated by reduced GH secretion [16]. A review article published in 2001 demonstrated that in 15 studies, 40-100% of children with PWS had a low peak GH response to stimulation tests, decreased spontaneous GH secretion and low serum IGF-1 levels [17].…”

Section: Benefits Of Gh In Adolescencementioning

confidence: 99%

Review of growth hormone therapy in adolescents and young adults with Prader–Willi syndrome

Lucas‐Herald

Perry

Shaikh

2015

Expert Review of Endocrinology & Metabolism

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“…Hypothyroidism is a treatable condition that contributes to OSA in some patients. Studies have reported variable prevalence of hypothyroidism in PWS patients with rates ranging from 2.1% (similar to the general population) up to 32%, and the true prevalence remains unknown [8,43,44,45]. It is recommended that children be screened for hypothyroidism by 3 months of age and then on an annual basis to determine if they may require treatment [8].…”

Section: Sleep Disordered Breathingmentioning

confidence: 99%

Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

Gillett

Perez

2016

Diseases

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Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from failure to thrive during infancy to hyperphagia and morbid obesity during later childhood and onward. Similarly, the phenotype of sleep disordered breathing in PWS patients also evolves over time from predominantly central sleep apnea in infants to obstructive sleep apnea (OSA) in older children. Behavioral difficulties are common and may make establishing effective therapy with continuous positive airway pressure (CPAP) more challenging when OSA persists after adenotonsillectomy. Excessive daytime sleepiness (EDS) is also common in patients with PWS and may continue after OSA is effectively treated. We describe here the characteristic ventilatory control deficits, sleep disordered breathing, and excessive daytime sleepiness seen in individuals with PWS. We review respiratory issues that may contribute to sudden death events in PWS patients during sleep and wakefulness. We also discuss therapeutic options for treating sleep disordered breathing including adenotonsillectomy, weight loss, and CPAP. Lastly, we discuss the benefits and safety considerations related to growth hormone therapy.

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Thyroid Function from Birth to Adolescence in Prader-Willi Syndrome

Cited by 32 publications

References 26 publications

Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

Effects of growth hormone treatment on thyroid function in pediatric patients with Prader–Willi syndrome

Review of growth hormone therapy in adolescents and young adults with Prader–Willi syndrome

Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

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