8 results on '"Gaudino, Rossella"'
Search Results
2. Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?
- Author
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Orlandi, Valentina, Cavarzere, Paolo, Palma, Laura, Gaudino, Rossella, and Antoniazzi, Franco
- Published
- 2021
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3. A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
- Author
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Paolo, Cavarzere, Andrea, Gastaldi, Elli, Francesca Marta, Rossella, Gaudino, Erika, Peverelli, Milena, Brugnara, Thiele, Susanne, Francesca, Granata, Giovanna, Mantovani, Franco, Antoniazzi, Cavarzere, Paolo, Gastaldi, Andrea, Gaudino, Rossella, Peverelli, Erika, Brugnara, Milena, Granata, Francesca, Mantovani, Giovanna, and Antoniazzi, Franco
- Subjects
GENETIC variation ,ERYTHROCYTE membranes ,MISSENSE mutation ,HUMAN abnormalities ,GENES ,PRECOCIOUS puberty ,SYMPTOMS - Abstract
Background: GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gsα result in constitutive cAMP stimulation. Recent research has described a clinical condition characterized by both gain and loss of Gsα function, due to a heterozygous de novo variant of the maternal GNAS allele.Patients and Methods: We describe a girl with a complex combination of clinical signs and a new heterozygous GNAS variant. For the molecular analysis of GNAS gene, DNA samples of the proband and her parents were extracted from their peripheral blood samples. In silico analysis was performed to predict the possible in vivo effect of the detected novel genetic variant. The activity of Gsα protein was in vitro analyzed from samples of erythrocyte membranes, recovered from heparinized blood samples.Results: We found a new heterozygous missense c.166A > T-(p.Ile56Phe) GNAS variant in exon 2, inherited from the mother that determined a reduced activity of 50% of Gsα protein function. The analysis of her parents showed a 20-25% reduction in Gsα protein activity in the mother and a normal function in the father. Clinically our patient presented a multisystemic disorder characterized by hyponatremia compatible with a nephrogenic syndrome of inappropriate antidiuresis, subclinical hyperthyroidism, subclinical hypercortisolism, precocious thelarche and pubarche and congenital bone abnormalities.Conclusions: This is the first time that the new variant c.166A > T (p.Ile56Phe) on exon 2 of GNAS gene, originated on maternal allele, has been described as probable cause of a multisystemic disorder. Although the mutation is associated with a reduced activity of the function of Gsα protein, this unusual phenotype on the contrary suggests a mild functional gain. [ABSTRACT FROM AUTHOR]- Published
- 2022
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4. Role of Body Weight in the Onset and the Progression of Idiopathic Premature Pubarche.
- Author
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Cavarzere, Paolo, Mauro, Margherita, Gaudino, Rossella, Micciolo, Rocco, Piacentini, Giorgio, and Antoniazzi, Franco
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BODY weight ,BODY mass index ,LOW birth weight ,ADRENOGENITAL syndrome ,PRECOCIOUS puberty ,WEIGHT in infancy ,WEIGHT gain - Abstract
Background: The term premature pubarche (PP) refers to the appearance of pubic hair before age 8 in girls and before age 9 in boys. Although idiopathic PP (often associated with premature adrenarche) is considered an extreme variation from the norm, it may be an initial sign of persistent hyperandrogenism. Factors contributing to PP onset and progression have not been identified to date. Aims: The objectives of this study are to describe a group of Italian children with PP, to identify potential factors for its onset, and to define its clinical and biochemical progression. Methods: We retrospectively enrolled all infants born between 2001 and 2014 with PP. Children with advanced bone age (BA) underwent functional tests to determine the cause of PP. Hormonal analysis and BA determination were performed annually during a 4-year follow-up period. Results: A total of 334 children with PP were identified: idiopathic PP (92.5%, associated with premature adrenarche in some cases); related to precocious puberty (6.6%); late-onset 21-hydroxylase deficiency (0.9%). Low birth weight was associated with premature adrenal activation. Body mass index (BMI) was the only factor that influenced the progression of BA during follow-up. Conclusions: Low birth weight is a predisposing factor for premature adrenal activation. The increase in BMI in patients with idiopathic PP during the 4-years of follow-up was responsible for BA acceleration. We recommend prevention of excessive weight gain in children with PP and strict adherence to follow-up in order to prevent serious metabolic consequences. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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5. Does the risk of arterial hypertension increase in the course of triptorelin treatment?
- Author
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Palma, Laura, Gaudino, Rossella, Cavarzere, Paolo, and Antoniazzi, Franco
- Abstract
Background: Gonadotropin-releasing hormone agonists (GnRH-a) are common treatment options for central precocious puberty (CPP) in childhood. GnRH-a treatment is useful and has a good safety profile, with minimal adverse effects and no severe long-term consequences. The common side effects in children are menopause-like symptoms and local adverse events at the injection site. Case presentation: We present the case of a girl with CPP who developed arterial hypertension from treatment with GnRH-a (triptorelin). Comprehensive diagnostic studies ruled out other causes for her hypertension and its complications. After therapy was interrupted, her blood pressure remained within normal limits for age. Consequently, we hypothesize that the hypertension presented by our patient was related to triptorelin treatment. Conclusions: Although the etiology of this adverse event is not known and only some hypotheses can be made, clinicians should be aware that arterial hypertension might appear during triptorelin treatment in childhood with CPP. Therefore, they should routinely monitor the arterial blood pressure of patients under treatment. [ABSTRACT FROM AUTHOR]
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- 2020
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6. Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
- Author
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Cavarzere, Paolo, Mauro, Margherita, Vincenzi, Monica, Lauriola, Silvana, Teofoli, Francesca, Gaudino, Rossella, Ramaroli, Diego Alberto, Micciolo, Rocco, Camilot, Marta, and Antoniazzi, Franco
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PRECOCIOUS puberty ,HYPERPLASIA ,ANDROGENS ,MEDICAL screening - Abstract
Background: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. Methods: We evaluated all infants born between 2001 and 2014 with premature pubarche. In case of increased bone age, they were submitted to functional tests to find out the cause of their symptoms. Their 17-OHP values at newborn screening for CAH were reconsidered. Results: We identified 330 patients (269 females, 61 males) with premature pubarche. All these children had a normal 17-OHP at newborn screening with the exception of a child, born preterm and not affected by CAH. Conclusions: An elevated 17-OHP at newborn screening is not a predictive factor for premature pubarche. A likely cause of increased 17-OHP level at screening is an immaturity of adrenal gland or a neonatal stress. Therefore a strict follow up of these neonates during childhood is not necessary. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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7. Prevalence of polycystic ovary syndrome in young women who had idiopathic central precocious puberty
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Franceschi, Roberto, Gaudino, Rossella, Marcolongo, Alma, Gallo, Maria Chiara, Rossi, Luigi, Antoniazzi, Franco, and Tatò, Luciano
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DISEASE prevalence , *POLYCYSTIC ovary syndrome , *DISEASES in women , *PRECOCIOUS puberty , *COHORT analysis , *MENARCHE , *LONGITUDINAL method , *PATIENTS - Abstract
Objective: To assess the prevalence of polycystic ovary syndrome (PCOS) in a cohort of young women with previous idiopathic central precocious puberty (ICPP) at least 3 years after menarche, and to look for any predictive factors of PCOS at the time ICPP was diagnosed. Design: Longitudinal study. Setting: Pediatrics unit, Verona, Italy. Patient(s): Forty-six young women (18.1 ± 3.0 years) who had been treated with GnRH analogues during childhood, observed at gynecologic age of 6.23 ± 3.3 years. Intervention(s): Semistructured interview concerning cycles, physical exam, blood sampling, and transabdominal pelvic ultrasound. Main Outcome Measure(s): Oligomenorrhea, LH, FSH, E2, T, DHEAS, free T, delta4-androstenedione, 17-OHP, P, polycystic ovary morphology (PCOM). Result(s): Fifteen percent of the young women had oligomenorrhea, 28% clinical hyperandrogenism, 48% biochemical hyperandrogenism, and 37% PCOM. A total of 32% of the patients had PCOS according to the Rotterdam definition and 30% had PCOS according to the Androgen Exess Society. The prevalent phenotype of PCOS was characterized by clinical and/or biochemical hyperandrogenism and PCOM. We did not find any predictive factors for PCOS at the time ICPP was diagnosed. Conclusion(s): Patients with ICCP are prone to developing PCOS. The prominent phenotype in this cohort was PCOM associated with clinical and/or biochemical hyperandrogenism. Further follow-ups of these young adult patients will clarify whether this phenotype persists and if it will have important long-term implications regarding increased risk of infertility or metabolic complications. [Copyright &y& Elsevier]
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- 2010
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8. Bone density in children treated with gonadotropin-releasing hormone analogs for central precocious puberty.
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Antoniazzi, Franco, Monti, Elena, Gaudino, Rossella, Cavarzere, Paolo, Zaffanello, Marco, Brugnara, Milena, Perlini, Silvia, Maines, Evelina, Gallo, Maria Chiara, Corso, Sara Dal, Zanon, Dario, and Tatò, Luciano
- Subjects
GONADOTROPIN releasing hormone ,PRECOCIOUS puberty ,BONE density ,JUVENILE diseases ,SOMATOTROPIN ,DUAL-energy X-ray absorptiometry ,SEX hormones ,THERAPEUTICS - Abstract
Estrogens, growth hormones and IGFs are essential in the development and growth of the skeleton and for the maintenance of bone mass and density. Treatment of precocious puberty with gonadotropin-releasing hormone analogs (GnRHa), leads to a situation of hypoestrogenism by reducing sex-steroid levels, which, theoretically, may have a detrimental effect on bone mass during pubertal development. A reduction in bone mineral density during GnRHa treatment has been shown, but GnRHa treatment in patients with central precocious puberty does not seem to impair the achievement of normal peak bone mass at adult height. However, calcium supplementation is effective in improving bone densitometric levels and may promote better peak bone mass achievement. INSET: Key issues. [ABSTRACT FROM AUTHOR]
- Published
- 2010
- Full Text
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