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Bizzarri C.,Unit of Endocrinology and Diabetes | Bottaro G.,University of Rome Tor Vergata
Hormone Research in Paediatrics | Year: 2015

In 1882, von Recklinghausen described a group of patients with multiple tumors arising from the 'endoneurium' of peripheral nerves, and called them 'neurofibromas'. The term von Recklinghausen disease was used up to the end of the 20th century, when the gene of neurofibromatosis (NF1) was cloned on chromosome 17q11.2. The gene product is a cytoplasmic protein termed neurofibromin, regulating proliferation and maturation of both glial and neuronal progenitors during embryogenesis. Loss of neurofibromin function determines the hyperactivation of the proto-oncogene RAS, leading to an increased risk of tumor formation, predominantly affecting the skin, bone and the nervous system. NF1 is clinically and genetically distinct from neurofibromatosis type 2, characterized by bilateral vestibular schwannomas and other nervous system tumors. An increased incidence of central precocious puberty, diencephalic syndrome, GH deficiency and GH hypersecretion has been described in NF1 children. These conditions are commonly complications of optic pathway gliomas (OPG) involving the hypothalamic and sellar region. Nevertheless, these endocrine disorders have been observed also in children without evidence of OPG at magnetic resonance imaging. Clinical and laboratory follow-up is crucial in all children with NF1, particularly in those with an OPG, aiming at the early identification of signs suggestive of secondary endocrine alterations. © 2015 S. Karger AG, Basel. Source

Persani L.,Laboratorio Of Ricerche Endocrino Metaboliche | Persani L.,University of Milan | Bonomi M.,Laboratorio Of Ricerche Endocrino Metaboliche | Lleo A.,Center for Autoimmune Liver Diseases | And 14 more authors.
Journal of Autoimmunity | Year: 2012

Multiple mechanisms have been proposed to explain the peculiar distribution of autoimmune thyroiditis (AIT) among women and men. Most attention has been focused on the detection of the role of estrogens and the X chromosome. Specifically, a potential role for X haploinsufficiency has been proposed in the female patient population and an association with the disease has been confirmed. Our knowledge of the etiopathogenesis of autoimmunity in male patients remains, however, limited. Next to the possible role of androgens and their imbalances, the Y chromosome appears as a potential candidate for influence of the immune function in men. Herein we analyzed a population of male patients with AIT (n=31) and healthy controls (n=88) to define a potential association of disease and the loss of the Y chromosome. Y chromosome loss increases in AIT compared to unaffected subjects; these phenomenon increases with aging as expected, however, the degree of loss is significantly increased in the patient population compared to the healthy controls. We were, thus, able to confirm the existence of an analogous mechanism in the male population to previously identified X haploinsufficiency in female patients with AIT. We propose that this commonality might represent a relevant feature in the etiopathogenesis of AIT that should be further investigated. © 2011 Elsevier Ltd. Source

Giacomozzi C.,University of Rome Tor Vergata | Gullotta F.,University of Rome Tor Vergata | Federico G.,Unit of Endocrinology and Diabetes | Colapietro I.,University of Rome Tor Vergata | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2010

We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen+progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. © 2010 Wiley-Liss, Inc. Source

Bizzarri C.,Unit of Endocrinology and Diabetes | Giannone G.,Bambino Gesu Childrens Hospital | Benevento D.,Unit of Endocrinology and Diabetes | Montemitro E.,Unit of Cystic Fibrosis | And 3 more authors.
Journal of Cystic Fibrosis | Year: 2013

Cystic Fibrosis-Related Diabetes (CFRD) is caused by a severe insulin deficiency with associated different degrees of insulin resistance. Data concerning the potential impact of autoimmunity are conflicting. Ninety subjects with cystic fibrosis (CF) were tested for glucose tolerance and autoantibodies against insulin (IAA), glutamic acid decarboxylase (GADA), protein tyrosine phosphatase (IA2) and zinc transporter 8 (Znt8A). Eighty-three subjects showed a normal glucose tolerance (92.2%), 6 subjects (6.6%) impaired glucose tolerance and 1 subject (1.1%) newly diagnosed CFRD. Four subjects were found positive for both IAA and GADA (4.4%), one subject (1.1%) for both IA2 and GADA, and one subject (1.1%) for isolated GADA. Three subjects (3.3%) showed isolated ZnT8A positivity. ZnT8A positivity in CF patients is uncommon and not associated with other autoantibodies. ZnT8A may not represent a specific indicator of a primary autoimmune beta-cell destruction, but possibly the expression of a secondary damage of the pancreatic islets with autoantigen release. © 2013 European Cystic Fibrosis Society. Source

Bizzarri C.,Unit of Endocrinology and Diabetes | Benevento D.,Unit of Endocrinology and Diabetes | Giannone G.,Bambino Gesu Childrens Hospital | Bongiovanni M.,Unit of Endocrinology and Diabetes | And 5 more authors.
Growth Hormone and IGF Research | Year: 2014

Objective: Impaired linear growth and reduced IGF-I levels in children with type 1 diabetes (T1DM) have been related to poor metabolic control. The aim of this study was to identify additional factors which may negatively affect growth and IGF system in patients with T1DM. Design: Ninety-one T1DM children (54 males, age. =.: 11.73. ±. 3. years, disease duration. =. 5.6. ±. 2.1. years) were studied. All children were on intensive insulin therapy: 62 children were on multiple injection therapy (MI) and 29 children on continuous subcutaneous insulin infusion (CSII). Results: Height velocity (HV) SDS and IGF-I levels were higher in females and in pubertal children [HV SDS: females. =. 0.6. ±. 2.4 vs males. =. -. 0.45. ±. 2.3 (. p=. 0.04); IGF-I SDS: females. =. -. 1.09. ±. 0.58 vs males. =. -. 1.4. ±. 0.6 (. p=. 0.02); IGF-I/IGFBP-3 molar ratio: females. =. 0.25. ±. 0.1 vs males. =. 0.21. ±. 0.08 (. p=. 0.04); IGF-I SDS: pre-pubertal. =. -. 1.58. ±. 0.46 vs pubertal. =. -. 1.15. ±. 0.65 (. p<. 0.001); IGF-I/IGFBP-3 molar ratio: pre-pubertal. =. 0.16. ±. 0.08 vs pubertal. =. 0.26. ±. 0.09 (. p<. 0.001)]. No differences between children on CSII or MI therapy were found. IGF-I SDS was positively related to C peptide level (. p<. 0.001), puberty (. p<. 0.001) and female gender (. p=. 0.02) and negatively related to HbA1c (. p=. 0.04). IGF-I/IGFBP-3 molar ratio was positively affected by C peptide level (. p<. 0.001), puberty (. p<. 0.001) and daily insulin dose (. p<. 0.001). Conclusions: Our results indicate that despite intensive insulin therapy, T1DM still negatively affects IGF-I secretion and linear growth. Growth impairment is more severe in males and primarily related to poor glycemic control and loss of the residual beta cell mass. © 2014 Elsevier Ltd. Source

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