Characterization of the IGF system in 15 patients with Alström syndrome

Maffei, Pietro; Boschetti, Mara; Marshall, Jan D.; Paisey, Richard; Beck, Sebastian; Resmini, Eugenia; Collin, Gayle B.; Naggert, Jürgen Κ.; Milan, Gabriella; Vettor, Roberto; Minuto, Francesco; Sicolo, Nicola; Barreca, Antonella

doi:10.1111/j.1365-2265.2007.02721.x

Cited by 25 publications

(23 citation statements)

References 39 publications

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“…However, Alström syndrome is associated with advanced bone age, and normal early growth may be due to hyperinsulinism [28,129,130], although in a series of 15 patients, no significant relation was observed between IGF (Insulin Growth Factor) levels and body mass index or blood glucose, insulin and testosterone levels [131]. Type 1 hyperoxaluria is also associated with advanced skeletal age in young patients, increased FGF23 (Fibroblast Growth Factor 23) levels and decreased bone mineral density, thus promoting fractures [132].…”

Section: Hypopituitarism and Growthmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and are classified into 3 main groups according to their mechanisms: cellular intoxication, energy deficiency, and defects of complex molecules. They can be associated with endocrine manifestations, which may be complications from a previously diagnosed IEM of childhood onset. More rarely, endocrinopathies can signal an IEM in adulthood, which should be suspected when an endocrine disorder is associated with multisystemic involvement (neurological, muscular, hepatic features, etc.). IEM can affect all glands, but diabetes mellitus, thyroid dysfunction and hypogonadism are the most frequent disorders. A single IEM can present with multiple endocrine dysfunctions, especially those involving energy deficiency (respiratory chain defects), and metal (hemochromatosis) and storage disorders (cystinosis). Non-autoimmune diabetes mellitus, thyroid dysfunction and/or goiter and sometimes hypoparathyroidism should steer the diagnosis towards a respiratory chain defect. Hypogonadotropic hypogonadism is frequent in haemochromatosis (often associated with diabetes), whereas primary hypogonadism is reported in Alström disease and cystinosis (both associated with diabetes, the latter also with thyroid dysfunction) and galactosemia. Hypogonadism is also frequent in X-linked adrenoleukodystrophy (with adrenal failure), congenital disorders of glycosylation, and Fabry and glycogen storage diseases (along with thyroid dysfunction in the first 3 and diabetes in the last). This is a new and growing field and is not yet very well recognized in adulthood despite its consequences on growth, bone metabolism and fertility. For this reason, physicians managing adult patients should be aware of these diagnoses.

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Section: Hypopituitarism and Growthmentioning

confidence: 99%

Endocrine manifestations related to inherited metabolic diseases in adults

Vantyghem

Dobbelaere

Mention

et al. 2012

Orphanet J Rare Dis

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“…Growth hormone deficiency in isolation or in combination with other pituitary hormone deficiencies has been reported and may account for the short stature in some subjects. 7,8 Sexual development is often reported to be normal although infertility is likely in these patients. This could be the result of alterations in the gonadotrophic axis secondary to obesity or gonadal resistance to the action of gonadotrophins with hypergonadotrophic hypogonadism.…”

Section: Discussionmentioning

confidence: 97%

Alstrom syndrome – a diagnosis revisited

Vusirikala

Rajkumar

Choudhary

et al. 2013

Diabetes & Vascular Disease

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A 34 year old male referred by ophthalmology to our diabetes clinic with poor metabolic control. He was diagnosed to have type 2 diabetes at the age of 27 years when he presented with abdominal pain and osmotic symptoms with an HbA 1c of 11.2 %. There was no family history of diabetes and he was diagnosed with hypertension at the age of 25 years along with a severe mixed dyslipidaemia. All investigations for secondary hypertension were negative.On physical examination, he was noted to be significantly overweight with a BMI of 36 kg/m 2 and central adiposity. He did not have any evidence of micro or macrovascular complications. He wore hearing aids in both ears and was noted to have nystagmus with perception of light in both eyes. He had normal anterior segments apart from bilateral early sub capsular cataracts with normal intraocular pressures. A fundus examination showed the presence of bilateral pigmentary retinopathy with a slightly pale optic disc. There was no evidence of poly-or syndactyly suggestive of BBS.His diabetes was initially treated with metformin and then pioglitazone. His glycaemic control continued to be suboptimal due to his poor diet and reduced mobility. He was intolerant to GLP-1 therapy and was eventually commenced on insulin.He was also treated with ezetimibe and nicotinic acid as he was intolerant to statins & fibrates. His liver enzymes were slightly abnormal with an isolated elevated γGT .There were no stigmata of chronic liver disease and an ultrasound scan was normal apart from fatty infiltration. He was also found to have hypogonadism and commenced on testosterone therapy.His prior history included poor vision since the age of 8 when he was registered blind. His vision continued to deteriorate and by the age of 12 he just had perception of light with sensorineural deafness diagnosed at fifteen. He was also previously considered to have ocular albinism. Various ocular diagnoses were suggested including the possibility of Usher's Syndrome (type 2). The diagnosis of Abstract Carl Henry Alstrom first described the syndrome in 1959. 1 It is a rare autosomal recessive, single gene, multi system disorder characterised by early onset retinal (progressive cone rod) dystrophy with profound visual loss, childhood obesity with insulin resistance, hyperinsulinaemia and diabetes, sensorineural hearing loss, dilated cardiomyopathy as well as progressive renal and hepatic dysfunction. We present a case of Alstrom syndrome diagnosed in a 34 year old male subject followed by a brief review of its clinical presentation

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“…With respect to pituitary gland function in AS, GH functional deficiency has been observed in 50% of AS patients [9]; similarly hypogonadism [10] has been detected in half of male patients, suggesting the presence of a hypothalamic-pituitary-gonadic axis dysfunction. GH/sex hormone and pituitary gland abnormalities could represent the two sides (morphological and functional) of this axis dysfunction.…”

Section: Discussionmentioning

confidence: 99%

“…The localization of ALMS1 to centrosomes, basal bodies, and cytosol predicts ALMS1 to be a ciliary protein and may explain the wide range of AS phenotypes, including brain abnormalities [7]. A few studies have addressed the pituitary function in AS,[8–10] and none have focused on the possible concomitant morphological MRI changes of the pituitary gland.…”

Section: Introductionmentioning

confidence: 99%