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6 results on '"Malavolta, Elena"'

2. Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.

Author

Fraccascia, Barbara, Sodero, Giorgio, Pane, Lucia Celeste, Malavolta, Elena, Gola, Caterina, Pane, Luigi, Paradiso, Valentina Filomena, Nanni, Lorenzo, Rigante, Donato, and Cipolla, Clelia

Subjects
ANDROGEN-insensitivity syndrome, SEX differentiation disorders, ANDROGEN receptors, HORMONE therapy, PEDIATRIC endocrinology, PUBERTY
Abstract

Background: Complete androgen insensitivity syndrome (CAIS) is a rare disorder of sex development characterized by 46,XY karyotype and testes, yet presenting with a complete female phenotype, which is related to mutations in the androgen receptor (AR) gene. Case presentation: We herein present the case of a 14-year-old adolescent with primary amenorrhea and suspected delayed puberty whose diagnostic journey led to the identification of CAIS through the demonstration of a novel AR variant (c.159_207del). Case-based review: Our report encompasses the complexity of CAIS management, focusing on the risk of malignancy, surveillance options, hormone replacement therapy, timing of an eventual gonadectomy, and the psychosocial impact of such a diagnosis. An algorithm has been formulated for the management of CAIS starting in adolescence, highlighting the conservative approach for those patients unwilling to undergo gonadectomy. Conclusions: Primary amenorrhea and delay in puberty development may provide clues, ultimately leading to a diagnosis of CAIS. This review emphasizes the cruciality of a multidisciplinary approach in managing patients with CAIS, needing for an individualized care to optimize the overall outcome. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Lipid profile and triglyceride-glucose index (TyG) alterations in a single-center cohort of children diagnosed with central precocious puberty

Author

Sodero, Giorgio, Pane, Lucia Celeste, Malavolta, Elena, Rotunno, Giulia, Sessa, Linda, Fraccascia, Barbara, Candelli, Marcello, Rigante, Donato, Cipolla, Clelia, Sodero G, Pane LC, Malavolta E, Rotunno G, Sessa L, Fraccascia B, Candelli M (ORCID:0000-0001-8443-7880), Rigante D (ORCID:0000-0001-7032-7779), Cipolla C, Sodero, Giorgio, Pane, Lucia Celeste, Malavolta, Elena, Rotunno, Giulia, Sessa, Linda, Fraccascia, Barbara, Candelli, Marcello, Rigante, Donato, Cipolla, Clelia, Sodero G, Pane LC, Malavolta E, Rotunno G, Sessa L, Fraccascia B, Candelli M (ORCID:0000-0001-8443-7880), Rigante D (ORCID:0000-0001-7032-7779), and Cipolla C

Abstract

Background: A correlation between plasma lipids and timing of pubertal development has been hypothesized, though lipid influence remains unclear in central precocious puberty (CPP). Aim: To assess any possible alterations in the lipid profile and triglyceride glucose index (TyG) in children diagnosed with CPP. Patients and Methods: Retrospective single-center study conducted on children (aged 6.3 ± 2.1 years) evaluated for the suspicion of CPP. Results: Based on the results of the gonadotropin releasing hormone (GnRH) test, considering 5 IU/L as cut-off of for the luteinizing hormone peak, CPP was confirmed in 43 patients (57.3%). Sixteen (37.2%) had a pathologic body mass index (BMI), with 9 (20.9%) being overweight and 7 (16.27%) obese. High total cholesterol was found in 3 patients with CPP (6.97%), high triglycerides were found in 11 patients with CPP (25.58%), high LDL cholesterol was found in 5 patients with CPP (11.62%), low HDL cholesterol was found in 12/43 patients with CPP (27.9%), a pathologic TyG was found in 13/43 patients with CPP (30.23%). No significant association was observed in the lipid profile for patients with or without CPP, except for HDL cholesterol, which was lower in the CPP group (47.1±10.9; p=0.033). However, the association between serum HDL cholesterol and CPP was not confirmed at the multivariate logistic regression analysis adjusted for patients’ sex and age (p=0.1; OR: 1.035; 95%CI: 0.993-1.078). Conclusion: The overall lipid profile of our pediatric patients diagnosed with CPP did not differ from patients having idiopathic precocious thelarche or normal variants of puberty development.

Published
2024

6. Not only enuresis: do not disregard organic disorders.

Author

Ferrara P, Magli G, Malavolta E, Procaccini E, Massimi L, and Gatto A

Subjects
Child, Humans, Female, Physical Examination, Nocturnal Enuresis diagnosis, Nocturnal Enuresis etiology, Nocturnal Enuresis therapy
Abstract

Nocturnal enuresis (NE) is a common condition in the pediatric age. NE is defined as an intermittent bedwetting with any frequency while sleeping in children. NE is classified into primary form (patient never had achieved nocturnal urinary control) or secondary form (children with a period of 6 consecutive months of night-time urinary control before incontinence, which is generally associated with organic or psychological causes). Moreover, NE could be monosymptomatic (MNE) or non-monosymptomatic (NMNE), depending on the presence of daytime incontinence or any other lower urinary tract symptoms (LUTS). We report a 7-year- old female with a history of recent onset of sphincter troubles and recurrent low urinary tract infections. She presented urinary urgency associated to daytime incontinence, bedwetting almost every night in the previous 3 months and sometimes encopresis. The physical and neurological examination was silent, no psychological or social problem intercurred. As first approach, she was treated with deamino-delta-D-arginine vasopressin (dDAVP) 120 mcg associated with oxybutynin 5 mg and educational therapy, for 3 months without benefits. So, she underwent a magnetic resonance imaging (MRI) of the spinal cord, that highlighted the presence of hydrosyringomyelia from D6 to D10, lipoma of the terminal filum and the presence of synovial cyst between L5-S1. This case remarks that in secondary NMNE, any possible organic cause must be investigated.

Published
2023
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