MR of the pituitary in patients with Prader-Willi syndrome: Size determination and imaging findings

Miller, Leslie J.; Angulo, Moris; Price, Donald B.; Taneja, Sangeeta

doi:10.1007/bf01403704

Cited by 47 publications

(26 citation statements)

References 16 publications

(15 reference statements)

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“…We performed pituitary MRI in 16 patients and found pituitary hypoplasia in more than 60% of them whatever their GH status. This pituitary defect has already been reported in patients with PWS with the same incidence [25, 26]. Here we show that pituitary hypoplasia is not related to GHD, but rather to the syndrome itself.…”

Section: Discussionsupporting

confidence: 59%

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

Tauber

Barbeau²,

Jouret³

et al. 2000

Horm Res Paediatr

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We report on the auxological and endocrine evolution of 28 patients presenting with Prader-Willi syndrome. Half of them received growth hormone (GH) therapy (group 2). The spontaneous auxological evolution was analyzed in the two groups from 2 to 8 years; the mean SDS for height remained stable (–0.6 ± 0.6) in group 1 and decreased (from –2.0 ± 0.9 to –2.7 ± 0.6) in group 2. Magnetic resonance imaging showed marked pituitary hypoplasia in the two groups. In group 2, the mean GH peak after two provocative tests was 3.8 ± 2.4 µg/l, the mean SDS values for insulin-like growth factor I levels were –2.0 ± 1.5 (range from –0.5 to –5.0). The mean duration of GH treatment was 3.6 ± 2.9 (range 1–9.3) years. 14 children completed 1 year of treatment. The two groups had opposite evolutions in ΔSDS for height (–0.8 ± 0.8 vs. +1.1 ± 0.8), for growth velocity (–1.9 ± 2.2 vs. +2.9 ± 2.7), and for Z score of the body mass index (+0.37 ± 1.3 vs. –0.14 ± 0.76; group 1 vs. group 2). This retrospective study shows that, in children with Prader-Willi syndrome and true GH deficiency, long-term GH therapy is effective in increasing growth velocity and in maintaining body mass index.

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Section: Discussionsupporting

confidence: 59%

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

Tauber

Barbeau²,

Jouret³

et al. 2000

Horm Res Paediatr

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“…Studies of pituitary size and structure are limited and contradictory. One study reports no significant difference in height of the anterior pituitary lobe in growth hormone-deficient PWS individuals compared with normal controls or children with isolated growth hormone deficiency (GHD) [6]. In two other studies, however, a reduction of pituitary height was observed in 50–60% of the patients with PWS [7,8].…”

Section: Introductionmentioning

confidence: 99%

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome

et al. 2011

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Background: In adults with Prader-Willi syndrome (PWS), limited information is available about pituitary function, more specifically the prevalence of growth hormone deficiency (GHD). The aim of this study was to gain more insight into endocrine function in PWS adults, with emphasis on GH secretion. Methods: 15 randomly selected adult PWS individuals were included and 14 healthy brothers and sisters served as a control group. Main outcome measures were IGF-I, IGFBP-3 and peak GH level after a combined GHRH-arginine test. Other pituitary hormone deficits are diagnosed based on serum levels of the concerning hormones. The size of the pituitary gland was measured on MRI images. Results: In PWS adults, IGF-I levels were low and IGFBP-3 levels normal when compared to healthy controls. GHD was diagnosed in 8–38% of the PWS patients, depending on the criteria used. Hypogonadism was present in 87% of the patients. Hypothyroidism and adrenal insufficiency could also be demonstrated. Anterior pituitary size was lower in PWS individuals when compared to healthy controls. Conclusion: In this study, pituitary hormone deficiencies are demonstrated in a considerable number of adults with PWS, hypogonadism and GHD being most prominent. Furthermore, the anterior pituitary is smaller in comparison with healthy controls.

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“…Structural abnormalities of the brain documented in PWS include frequent ventriculomegaly and cortical abnormalities. Pituitary abnormalities are common, but structural abnormalities of the hypothalamus are not typically found (1)(2)(3). Children with PWS typically have decreased spontaneous GH secretion and low peak GH response in stimulation tests (4,5), accompanied by reduced serum IGF-I and low IGF-binding protein 3 (6 -8).…”

mentioning

confidence: 99%

Impaired Hypothalamic Regulation of Endocrine Function and Delayed Counterregulatory Response to Hypoglycemia in Magel2-Null Mice

Tennese

Wevrick

2011

Endocrinology

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Hypothalamic dysfunction may underlie endocrine abnormalities in Prader-Willi syndrome (PWS), a genetic disorder that features GH deficiency, obesity, and infertility. One of the genes typically inactivated in PWS, MAGEL2, is highly expressed in the hypothalamus. Mice deficient for Magel2 are obese with increased fat mass and decreased lean mass and have blunted circadian rhythm. Here, we demonstrate that Magel2-null mice have abnormalities of hypothalamic endocrine axes that recapitulate phenotypes in PWS. Magel2-null mice had elevated basal corticosterone levels, and although male Magel2-null mice had an intact corticosterone response to restraint and to insulin-induced hypoglycemia, female Magel2-null mice failed to respond to hypoglycemia with increased corticosterone. After insulin-induced hypoglycemia, Magel2-null mice of both sexes became more profoundly hypoglycemic, and female mice were slower to recover euglycemia, suggesting an impaired hypothalamic counterregulatory response. GH insufficiency can produce abnormal body composition, such as that seen in PWS and in Magel2-null mice. Male Magel2-null mice had Igf-I levels similar to control littermates. Female Magel2-null mice had low Igf-I levels and reduced GH release in response to stimulation with ghrelin. Female Magel2-null mice did respond to GHRH, suggesting that their GH deficiency has a hypothalamic rather than pituitary origin. Female Magel2-null mice also had higher serum adiponectin than expected, considering their increased fat mass, and thyroid (T 4 ) levels were low. Together, these findings strongly suggest that loss of MAGEL2 contributes to endocrine dysfunction of hypothalamic origin in individuals with PWS. (Endocrinology 152: 967-978, 2011) P rader-Willi syndrome (PWS) is a complex genetic disorder, whose clinical features suggest abnormalities of the hypothalamic-pituitary axis. These include GH deficiency with short stature, increased fat mass and reduced lean mass, hypogonadotropic hypogonadism, childhood-onset hyperphagia and obesity, and sleep disorders. Structural abnormalities of the brain documented in PWS include frequent ventriculomegaly and cortical abnormalities. Pituitary abnormalities are common, but structural abnormalities of the hypothalamus are not typically found (1-3). Children with PWS typically have decreased spontaneous GH secretion and low peak GH response in stimulation tests (4, 5), accompanied by reduced serum IGF-I and low IGF-binding protein 3 (6 -8). GH deficiency contributes to abnormal body composition consisting of increased body fat mass and reduced lean mass, and treatment with GH partially normalizes body composition and short stature (9 -11). In contrast, obesity in the general population is often associated with a relative GH deficiency but normal or high levels of IGF-I, suggesting defective feedback mechanisms in GH pathways that can resolve on weight loss.In normal adults, serum leptin levels increase with increasing adiposity, but levels of adiponectin, particularly in its multimeric high mole...

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MR of the pituitary in patients with Prader-Willi syndrome: Size determination and imaging findings

Cited by 47 publications

References 16 publications

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

Auxological and Endocrine Evolution of 28 Children with Prader-Willi Syndrome: Effect of GH Therapy in 14 Children

The GH/IGF-I Axis and Pituitary Function and Size in Adults with Prader-Willi Syndrome

Impaired Hypothalamic Regulation of Endocrine Function and Delayed Counterregulatory Response to Hypoglycemia in Magel2-Null Mice

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