Publications by authors named "Emilio Merlini"
Article Synopsis
- True hermaphroditism is a rare disorder characterized by the coexistence of both testicular and ovarian tissues in an individual, making up less than 5% of all disorders of sex development.
- The case study highlights a patient with two genetic mutations linked to true hermaphroditism, who also shows symptoms of Kallmann syndrome, which includes hypogonadotropic hypogonadism and anosmia due to hormone deficiency.
- This case is significant as it documents the first known instance of a 46 XX true hermaphrodite with hypogonadotropic hypogonadism and digenic inheritance related to Kallmann syndrome.
Objective: The aim of this study was to describe the technical aspects of a robotic pyeloplasty in pediatric patients with uretero-pelvic junction obstruction (UPJO) in horseshoe kidney (HSK) through the report of our recent case, and to outline the state of the art of minimally invasive pyeloplasty (MIP) with a systematic review of the literature.
Methods: We describe all the steps of our surgery performed on an 11-year-old patient with left UPJO in HSK in detail. All the anatomic landmarks are clearly showed, with particular attention to trocar placement in a pediatric patient.
Testicular microlithiasis (TM), characterized by the presence of intratubular calcifications in a single or both the gonads, is an uncommon entity with unknown etiology and outcome in pediatric and adolescent age. In this study, the results of a multicenter long-term survey are presented. From 11 units of pediatric urology/surgery, patients with TM were identified and yearly, followed up in a 7-year period, adopting a specific database.
View Article and Find Full Text PDFPurpose: Female gender has been assigned to 46,XY newborns affected by aphallia, possibly resulting in subsequent gender dysphoria. Prenatal and postnatal effects of the androgens on the brain and sexual orientation cannot be modified later. Therefore, patients affected by aphallia should be raised as males.
View Article and Find Full Text PDFPurpose: Obstructive uropathies, including posterior urethral valves (PUVs) and kidney hypodysplasia, are the most frequent cause of renal failure in children. The role of renin-angiotensin system genes in renal and urinary tract development has been observed in experimental models. The aim of this study was to investigate the distribution of angiotensin converting enzyme (ACE), angiotensinogen (AGT) and angiotensin receptor type 1 (ATR1) genetic polymorphisms in children affected by chronic renal failure due to renal hypodysplasia associated with posterior urethral valves or without urethral abnormalities.
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