Prader-Willi Syndrome and Growth Hormone Deficiency

Aycan, Zehra; Baş, Veysel Nijat

doi:10.4274/jcrpe.1228

Cited by 56 publications

(59 citation statements)

References 36 publications

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“…A particular case concerns Prader-Willi Syndrome (PWS), a genetic disorder affecting chromosome 15q11-q13 and characterized by excessive eating secondary to a hypothalamic dysfunction, which leads to severe obesity. The prevalence of OSAS is high among PWS children: there are several factors, other than obesity, involved in inducing OSAS in PWS children, including GH deficiency, increased viscosity of secretions, and craniofacial abnormalities that give rise to collapsible, small caliber airways [20,21].…”

Section: The Round Trip Between Osas and Metabolic Syndromementioning

confidence: 99%

Sleep apnea syndrome in endocrine clinics

Ceccato

Bernkopf²,

Scaroni

2015

J Endocrinol Invest

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Obstructive sleep apnea syndrome (OSAS) is a chronic condition with a high prevalence (up to 7 % of the general population) characterized by frequent episodes of upper airway collapse while sleeping. Left untreated, OSAS can cause severe complications, including systemic hypertension, cardiovascular disease, stroke, and abnormal glucose metabolism. This review aims to summarize the close links between OSAS, endocrinology, and metabolism. In patients with metabolic syndrome, OSAS is an independent risk factor for the onset of type 2 diabetes and a worsening glycemic control. The accumulation of adipose tissue in the neck and limited chest wall dynamics, hypoxia, and local micro-inflammation link visceral obesity closely with OSAS. There is now an abundance of convincing data indicating that promoting lifestyle changes, improving sleep hygiene, and adjusting diet can ameliorate both metabolic syndrome and OSAS, especially in obese patients. The incidence of OSAS in acromegaly is high, though GH treatments seem to be unrelated to the onset of apnea in GH-deficient individuals. Prospective studies have suggested an association between hypertension and OSAS because intermittent nocturnal hypoxia prompts an increase in sympathetic tone, endothelial dysfunction, and vascular inflammation: aldosterone excess may have a pathophysiological role, and some authors have reported that treating OSAS leads to a modest, but significant, reduction in blood pressure.

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Section: The Round Trip Between Osas and Metabolic Syndromementioning

confidence: 99%

Sleep apnea syndrome in endocrine clinics

Ceccato

Bernkopf²,

Scaroni

2015

J Endocrinol Invest

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“…In particular, there is the loss of expression of paternal genes normally active and located in the chromosome 15q11-q13 region [104][105][106][107][108]. Conversely, a loss of expression of the preferentially maternally expressed UBE3A (OMIM *601623) gene in this region leads to Angelman syndrome (AS; OMIM #105830), an entirely different clinical disorder that causes developmental disabilities and neurological problems, such as difficulty speaking, balancing and walking, and, in some cases, seizures [109,110].…”

Section: Imprinted Genetic Syndromesmentioning

confidence: 99%

“…Hypothalamic dysfunction has been implicated in many manifestations of this syndrome including hyperphagia, temperature instability, high pain threshold, sleep-disordered breathing and multiple endocrine abnormalities [105,107,108].…”

Section: Imprinted Genetic Syndromesmentioning

confidence: 99%

“…Benefits of continuing GH therapy in adulthood remain unclear although an improvement has been observed in body composition and cognitive functions in patients who received treatment only in adulthood. Contraindications for GH therapy in PWS patients are severe obesity, uncontrolled diabetes mellitus, untreated severe OSA, active cancer and psychosis [108].…”

Section: Treatment Options In Patients With Genetic Obesitymentioning

confidence: 99%

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New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Stagi¹,

Bianconi²,

Sammarco³

et al. 2017

Adiposity - Omics and Molecular Understanding

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Historically, some genetic syndromes and monogenic forms of obesity have been identified by clinical features and by sequencing candidate genes in patients with severe obesity. The phenotypic expression of genetic factors involved in obesity is variable, thereby allowing to distinguish several clinical pictures of obesity. Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. Many of the findings emerged from studying families who displayed a classical Mendelian pattern of inheritance. On the contrary, patients with syndromic obesity show a various degree of intellectual disability, different dysmorphic features, and organ-specific abnormalities. But to date, not all involved genes have been identified so far. New diagnostic tools, such as genome-wide studies, array CGH, and whole-exome sequencing, have highlighted more complex models of inheritance, and even more candidate genes were identified. This increase of knowledge may provide insights into the mechanisms involved in the regulation of body weight and finally lead to specific treatments. In these patients, hyperphagia is often a primary phenotypic component. Substantial gaps in understanding the molecular basis of inherited hyperphagia syndromes are present today with a lack of mechanistic targets that can serve as a basis for pharmacologic and behavioral treatments. We have evaluated retrospectively the literature data on weight, body mass index (BMI), clinical features, treatments, and treatment response in pediatric patients with forms of genetic obesity. However, this chapter provides an updated picture of emerging knowledge outlined by the more comprehensive genetic approaches, trying to outline more candidate genes for these forms of genetic obesity. Relevant papers will be identified through systematic searches of the PubMed, EMBASE and Cochrane databases. All published studies in the English language concerning these disorders will be evaluated. Keywords in the

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“…Dados pré-natais também podem auxiliar no diagnóstico, como diminuição da atividade fetal, observada na maioria dos casos (31), polidrâmnio e posicionamento anormal das mãos e dos pés, visíveis na ultrassonografia a partir do terceiro trimestre (25).…”

Section: Síndrome De Cohenunclassified

Análise cromossômica por microarray em pacientes com deficiência intelectual associada à obesidade

Reis¹

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Prader-Willi Syndrome and Growth Hormone Deficiency

Cited by 56 publications

References 36 publications

Sleep apnea syndrome in endocrine clinics

Sleep apnea syndrome in endocrine clinics

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Análise cromossômica por microarray em pacientes com deficiência intelectual associada à obesidade

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