46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the PROKR2 Gene: A Case Report.

True hermaphroditism is a disorder of sex development (DSD), accounting for less than 5% of all DSD cases, defined by the simultaneous presence of testicular tissue and ovarian tissue in the same individual. In the reported case, the patient presented two genetic mutations involved in the pathogenic pathway of the DSD condition associated with the clinical features of Kallmann syndrome (KS), a developmental disease that associates hypogonadotropic hypogonadism (HH), due to gonadotropin-releasing hormone deficiency, and anosmia, related to the absence or hypoplasia of the olfactory bulbs. Given the variable degree of hyposmia in KS, the distinction between KS and normosmic idiopathic HH is currently unclear, especially as HH patients do not always undergo detailed olfactory testing. This syndrome is very rare, with an estimated prevalence of 1:80,000 in males and 1:40,000 in females. This is the only case report concerning a patient with 46 XX true hermaphroditism affected by HH and digenic inheritance of Kallmann syndrome.

Robot-assisted laparoscopic pyeloplasty in a pediatric patient with horseshoe kidney: surgical technique and review of the literature.

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. A systematic review of the literature on the outcomes of MIP in HSK patients has been performed, including 16 articles. RESULTS: Our surgery was successful following a standardized approach. However, we recorded a rare complication, the herniation of a small portion of omentum through the 8 - mm defect used for the caudal robotic port. The evidence synthesis shows excellent postoperative outcomes for both laparoscopic and robot-assisted laparoscopic pyeloplasties in HSK patients. Probably, MIP should be preferred to the traditional open approach in these patients, when feasible. CONCLUSIONS: Transperitoneal robotic pyeloplasty is an excellent minimally invasive choice for the treatment of UPJO in HSK pediatric patients. The pediatric setting should prompt attention to every detail to avoid unfortunate complications.

Long-Term Follow-Up of Testicular Microlithiasis in Children and Adolescents: Multicenter Prospective Cohort Study of the Italian Society of Pediatric Urology.

Introduction 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. Materials and Methods 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. The recorded items were: age at diagnosis, presenting symptoms/associated abnormalities, ultrasonographic finding, surgery and histology at biopsy, if performed. Results Out of 85 patients, 81 were evaluated yearly (4 patients lost to follow-up). TM was bilateral in 66.6% of the patients. Associate genital abnormalities were present in 90%, more frequently undescended/retractile testis (23.4%) and varicocele (22.2%). TM remained unchanged at 4.7 years follow-up in 77 patients (93.8%) and was reduced in 4 patients after 1 to 5 years of inguinoscrotal surgery. Orchiectomy was performed in three patients (3.7%), one for severe testicular hypoplasia and two for seminoma (2.5%), respectively, concurrent and metachronous to diagnosis of TM. Tumorectomy with parenchymal sparing surgery was performed in a teratoma associated with TM. Conclusion TM is a controversial entity, often associated with several inguinogenital features, which rarely can recover. Testicular malignancy, although present in TM, has not proven definitively associated to microliths. Proper counseling, yearly ultrasound, and self-examination are long-term recommended.

Phalloplasty and urethroplasty in children with penile agenesis: preliminary report.

PURPOSE: 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. Because definitive forearm flap phalloplasty is generally not recommended before puberty, we performed a preliminary penile reconstruction during childhood in 4 patients. MATERIALS AND METHODS: Four patients with aphallia who had no sex reassignment at birth were treated at age 9, 17 and 36 months, and 12 years in a single operation. The urethral channel was dissected through an anterior-sagittal-transanorectal approach, and then phalloplasty and urethroplasty were carried out using an abdominal skin flap and a bladder/buccal mucosa free graft. RESULTS: Immediate postoperative outcome was excellent in all the patients. One patient had excellent functional and cosmetic results at 5 years, while 2 had a partial dorsal urethral dehiscence resulting in an epispadiac urethra at 2 years, and 1 had necrosis of the distal urethra and was voiding through a scrotal urethrostomy at 9 months postoperatively. Phalloplasty survived and provided an adequate male appearance in all patients. CONCLUSIONS: Opposite gender should not be assigned in patients affected by penile agenesis, who are better raised according to their karyotype and hormonal production. Definitive phalloplasty in adults may achieve good results. Nevertheless, this procedure is generally performed in postpubertal boys and it is not easily available everywhere. Therefore, we believe that social and psychological concerns justified this type of phalloplasty as a palliative preliminary procedure in 3 of our patients. In those countries where definitive forearm phalloplasty is not available our method may also be justified in older children (as in 1 of our patients) as an attempt at a definitive procedure.

Low renin-angiotensin system activity gene polymorphism and dysplasia associated with posterior urethral valves.

PURPOSE: 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. MATERIALS AND METHODS: The study included 50 children (21 with hypodysplasia associated with PUVs, 7 with obstructive uropathy and 22 with pure hypodysplasia) and 50 healthy subjects matched for sex and geographic origin. ACE ID, AGT TC and ATR1 AC gene polymorphisms were assayed in all patients with standard polymerase chain reaction techniques. RESULTS: ACE II was expressed more in patients with PUVs compared to those with other dysplasias and controls (43% vs 7% and 10%, respectively, chi-square test p <0.05), while ATR1 AA was significantly less represented in patients with hypodysplasia compared to controls (38% vs 56%, chi-square test p <0.05). ACE DD and AGT genotypes were not distributed differently in patients with PUVs compared to those with other dysplasias and controls. CONCLUSIONS: To our knowledge this is the first report associating severe congenital uropathies and renal hypodysplasia with decreased renin-angiotensin system activity associated with the ACE II genotype and a possible functional imbalance among ATR1 receptors.