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Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family.

CONTEXT: Post-operative clinical and biochemical hypocalcemia is a common complication of thyroid surgery and the correlation with incidental parathyroidectomy (IP) remains controversial. OBJECTIVE: To evaluate the incidence of IP during TT, its correlation to early post-surgery hypocalcemia, and its potential risk factors. PATIENTS AND METHODS: 77 consecutive patients submitted to thyroid surgery between January 2018 and December 2019. Demographic, clinical, biochemical, surgical and histopathological factors were assessed. Statistical multivariate analysis was performed to identify the risk of IP. RESULTS: IP was evident in 22 (28.5%) patients who underwent TT, TT with lymph node dissection of the central compartment (CLND) and reoperation for previous hemithyroidectomy with CLND. Early symptomatic hypocalcemia 24 hours after TT was demonstrated in 12/22 (54.5%) patients, with PTH value of

Primary pancreatic lymphoma (PPL) represents less than 0.5% of all pancreatic neoplasms. Clinical manifestations are non-specific and diagnosis is delayed in the majority of patients.85-year-old woman reporting accidental fall at home 20-days earlier, was admitted with diagnosed of acute abdomen from suspected two-stage rupture of the spleen. The patient complained of pain in the upper abdomen. Blood-chemical tests did not show anemia and leukocytosis, but showed increased CA19.9, CA125, LDH and beta2- microglobulin. Contrast-enhanced CT showed left pleural, perisplenic, perihepatic, and Douglas blood effusion, a neoformation of the body-tail of the pancreas with peri-pancreatic blood layer, splenomegaly due to the presence of a hypodense area as from intraparenchymal hematoma, with an apparently undamaged splenic capsule. The patient underwent emergency exploratory laparotomy, that revealed the presence of modest free serohematic effusion from oozing of the pancreatic neoformation. The local spread of the disease prevented any attempt at surgical resection. Bleeding was checked with the addition of topical hemostats (Tabotamp®) and biopsy sampling of the pancreatic mass was performed. A final histological diagnosis of large cell NHL of centro-follicular origin, double expressor for the CMYC and BCL2 protein, was achieved. The age of the patient, the poor general conditions, the associated pathologies, the locally advanced spread of the disease and the histological aggressiveness, were contraindications to chemo-radiotherapy treatments.The initial misdiagnosis was due to the history of recent trauma, the uncommon clinical presentation, the underestimation of the serum increase in markers and the interpretation of the CT.Acute Abdomen, Hemoperitoneum, Primary Pancreatic Lymphoma.Il linfoma pancreatico primitivo (PPL) rappresenta meno dello 0.5% di tutte le neoplasie pancreatiche. Le manifestazioni cliniche di esordio non sono specifiche e la diagnosi è tardiva nella maggioranza dei pazienti. OSSERVAZIONE PERSONALE: Donna di 85 anni, ricoverata presso l’Ospedale Universitario “A. Fiorini” di Terracina- Polo Pontino, con diagnosi di addome acuto da sospetta rottura in due tempi della milza. Al ricovero la pz lamentava dolore a carico dei quadranti addominali superiori e riferiva caduta accidentale in casa avvenuta 20 giorni prima. Presentava esami ematochimici negativi per anemia e leucocitosi (Hb12.7g/dl; GB9.8x10/UL), significativo incremento del CA19.9 (196 U/ml), del CA125 (138 U/ml), delle LDH (1044 U/L) e della beta2-microglobulina. La CT torace-addome-pelvi con mdc mostrava versamento a densità ematica in sede pleurica sinistra, perisplenica, periepatica e nel Douglas e una neoformazione del corpo-coda pancreas con falda ematica peripancreatica. La milza appariva di dimensioni notevolmente aumentate, con presenza di area ipodensa di 12.5x10.6 cm di diametro come da ematoma intraparenchimale, con capsula splenica apparentemente indenne. La pz veniva sottoposta a laparotomia esplorativa urgente per sospetto emoperitoneo. All’apertura della cavità peritoneale si dimostrava la presenza di modesto versamento libero sieroematico da stillicidio della neoformazione pancreatica. La diffusione locale della malattia impediva ogni tentativo di resezione chirurgica. Si procedeva a controllo del sanguinamento con apposizione di emostatici topici (Tabotamp®) e a prelievo bioptico dalla neoformazione pancreatica. Si poneva diagnosi istologica finale di Linfoma Non-Hodgkin a grandi cellule di origine centro- follicolare, doppio espressore per la proteina CMYC e BCL2 all’immunoistochimica. L’età della pz, le scadenti condizioni generali, le patologie associate in trattamento poli-farmacologico, la diffusione localmente avanzata della malattia e l’aggressività istologica controindicavano il trattamento chemioradioterapico. CONCLUSIONE: La diagnosi di PPL è molto difficile e tardiva nella maggioranza dei pz, poichè le manifestazioni cliniche di esordio sono di solito aspecifiche; così come nel caso da noi riportato in cui il sanguinamento intraretro- peritoneale era difficilmente riconducibile ad una malattia pancreatica. I riferito trauma addominale, la sintomatologia clinica aspecifica, la CT in cui non erano state evidenziate le alterazioni caratteristiche dei linfomi extranodali, la sottovalutazione dell’aumento dei livelli plasmatici dei marcatori CA19-9 e CA125, delle LDH e della beta2- microglobulina, sono state nel nostro caso la causa di errata diagnosi e indicazione al trattamento chirurgico in urgenza.

Pancreatic neuroendocrine tumors (PNETs) are uncommon, representing5% of all pancreatic neoplasms, divided into functioning PNETs with secreted hormone cause of specific symptoms, and non-functioning PNETs (nf- PNETs) characterized by delayed diagnosis with metastases and clinical manifestations of compressive effects. Surgical approach is recommended for functioning and nf-PNETs2 cm in diameter.A 76-year-old woman was admitted to the UOC-University-Surgery Hospital "A. Fiorini" in Terracina for nausea and pain in the upper abdominal quadrants with dorso-lumbar irradiation, arising after the evening meal. After the haematochemistry tests and the instrumental investigations, the diagnosis of acute, severe halitiasic pancreatitis was made. Conventional US, CCT, CE-MRI and EUS showed a 2.8cm diameter lesion in the head-body junction of the pancreas. FNA-cytological examination did not found the presence of atypical pancreatic cells. Total-body scintigraphy with Octreoscan® documented a pathological hypercaptation area located in correspondence with the neoformation. The patient underwent a body-tail spleno-pancreatectomy. The histological examination showed an intermediate grade (G2) nf-PNET infiltrating the lienal vein and stenosing the Wirsung duct, with perilesional pancreatitis. Immunohistochemistry showed CAM 5.2, Synaptophysin (95%) and Chromogranin (60%) positive immunophenotype, with negative intratumoral Somatostatin expression.Although rarely, nf-PNETS may be the cause of severe non-biliary acute pancreatitis from pancreatic ductal system compression. In cases where PET/CT68Ga cannot be performed, total-body scintigraphy with Octreoscan® remains the most widely used method for the diagnosis of PNETs and the identification of extra-pancreatic lesions. Chromogranin and Synaptophysin are confirmed as specific markers of neuroendocrine differentiation.Acute pancreatitis, Chromogranin, Pancreatic neuroendocrine tumor, Synaptophysin, Somatostatin.I tumori neuroendocrini del pancreas (PNET) sono rari, e rappresentano5% di tutte le neoplasie pancreatiche, suddivisi in PNET funzionanti con secrezione ormonale responsabile di sintomi specifici e PNET non funzionanti (nf-PNET) generalmente di diagnosi tardiva per la comparsa di metastasi o manifestazioni cliniche per effetti compressivi. L’approccio chirurgico è il trattamento di scelta per PNETs funzionanti, non-funzionanti di diametro superiore a 2 cm o sintomatici per disturbi da compressione. Osservazione personale. Donna di 76 anni ricoverata presso la UOC-Università-Chirurgia Ospedale “A. Fiorini” di Terracina per nausea e dolore ai quadranti addominali superiori con irradiazione dorso-lombare, insorti dopo un pasto serale. Dopo gli esami ematochimici e le indagini strumentali, è stata fatta la diagnosi di pancreatite acuta severa. Gli US convenzionali, CCT, CE-MRI ed EUS hanno mostrato una lesione di 2,8 cm di diametro nella giunzione testa-corpo del pancreas. L’esame citologico FNA non ha rilevato la presenza di cellule pancreatiche atipiche. La scintigrafia total body con Octreoscan® ha documentato un’area di ipercaptazione patologica situata in corrispondenza della neoformazione. La paziente è stata sottoposta a spleno-pancreasectomia corpo-coda. L’esame istologico ha dimostrato un nf-PNET di grado intermedio (G2) stenosante il vena lienale e stenosante il dotto di Wirsung, con pancreatite perilesionale. L’immunoistochimica ha mostrato un immunofenotipo positivo per CAM5.2, sinaptofisina (95%) e cromogranina (60%), con espressione di somatostatina intratumorale negativa. CONCLUSIONE: Sebbene raramente un nf-PNETS può essere la causa di grave pancreatite acuta non biliare da compressione del sistema duttale pancreatico. Nei casi in cui la PET / CT68Ga non può essere eseguita, la scintigrafia total body con Octreoscan® rimane il metodo più utilizzato per la diagnosi dei PNET e l’identificazione delle eventuali lesioni extra-pancreatiche. La cromogranina e la sinaptofisina sono confermate come marcatori specifici del differenziamento neuroendocrino.

Challenges in the diagnosis of polypoid gallbladder lesion (PLG) is due to the low sensibility (SE) of ultrasound scan (US), and the selection criteria of patients with PLG to be addressed to surgical treatment or followup are not yet fully defined.Retrospective observational study was conducted on 2631 patients, 1175(44.6%) M, mean age 56 years, 1456(55.4%) F, mean age 46 years, who underwent laparoscopic and open cholecystectomy.The US diagnosis for PLG was placed in 38/2631(1.4%) patients. On histological examination (HE) the polyps were identified in 68/2631(2.6%) patients and it was associated with biliary lithiasis in 28/2631 (1.1%) cases. From the US and HE comparison, the ultrasound diagnosis was burdened by false positives (8/38; 21%) and false negatives (38/2631;1.45%), with SE 44% (95% c.i.:32.2-55.7). The histological incidence of gall bladder cancer (GBC) was 0.38%(10/2631).US survey underestimated the incidence of PLG compared to the histological finding (p=0.021). Female gender has been shown to be a specific risk factor for benign and malignant PLG and non-polypoid mucosal lesions (p=0.041). The parietal lesion size0.5cm does not exclude the neoplastic nature. Currently the prevention and diagnosis of GBC is based on the early detection and treatment of potentially evolutionary polypoid lesions over a period of about 15 years.It is probably that early cholecystectomy in all the patients with PLG of diameter1cm, isolated or associated with lithiasis, symptomatic and asymptomatic, can contribute to the reduction of the incidence of GBC.Cholecystectomy, Gallbladder polyps, Gallbladder cancer, Ultrasound scan.La diagnosi ultrasonografica (US) delle lesioni polipoidi della colecisti (PLG) è difficile per la bassa sensibilità (SE) della metodica. Non sono stati ancora completamenti definiti i criteri di selezione dei pazienti con PLG da indirizzare al trattamento chirurgico o al follow-up. L’indagine istopatologica (EI) rappresenta il gold standard per la diagnosi di polipi non-neoplastici (colesterolotici, infiammatori, fibroepiteliali, adenomiomatosici), di polipi neoplastici (carcinomi, carcinoidi), di lesioni precancerose non polipoidi (displasia di basso ed alto grado, metaplasia intestinale di tipo muciparo, metaplasia gastrica di tipo pilorico) e di irregolarità nodulari parietali della colecistite xanto-granulomatosa. Gli scopi dello studio sono stati quelli di valutare in un campione di pazienti sottoposti a colecistectomia, la prevalenza dei polipi non neoplastici e neoplastici e la sensibilità dell’US tradizionale trans-addominale rispetto all’EI nell’identificazione delle PLG.Studio osservazionale retrospettivo, condotto su un campione di 2631 pazienti, sottoposti a colecistectomia laparoscopica e open, in elezione e in urgenza, identificati mediante il codice ICD-9-CM 51.2, nel periodo Aprile 2005 - Marzo 2018, presso l’ospedale universitario “A. Fiorini” di Terracina - Polo Pontino, “Sapienza” Università di Roma. Tutti i pazienti erano stati sottoposti a US.Il campione esaminato era costituito da 1175(44.6%) M, età media 56 anni, range 25-95 anni, 1456(55.4%) F, età media 46anni, range 17-90 anni. La diagnosi US di PLG veniva posta in 38/2631(1.4%) pazienti. All’esame istologico i polipi erano identificati in 68/2631(2.6%) pazienti, associati a litiasi biliare in 28/2631 (1.1%) casi. Dal confronto US e EI la diagnosi ecografica risultava gravata da falsi positivi (FP) (8/38; 21%) e falsi negativi (FN) (38/2631; 1.45%), con SE 44% (95% c.i.:32.2-55.7). L’incidenza istologica di PLG neoplastiche è stata dello 0.38% (10/2631), 3M e 7F, età media 64 anni, (range 49-80 anni). In 3 casi le neoplasie erano state identificate all’US (3/10; 30 % VP); nei restanti 7 casi costituivano reperto istologico incidentale (7/10; 70 % FN), di cui 5 con diametro1cm nel contesto di un quadro clinico di colecistite acuta litiasica e 2 con diametro1cm in un quadro di litiasi non complicata.L’US tradizionale trans-addominale sottostimava l’incidenza delle PLG rispetto all’EI (p=0.021) e i FP per PLG isolate sono stati causa di errata indicazione al trattamento chirurgico. Il confronto fra diagnosi US ed EI conferma la bassa SE della metodica ecografica nell’identificazione delle PLG, sia in presenza che in assenza di litiasi biliare. Il sesso femminile si è dimostrato specifico fattore di rischio per PLG benigne e maligne e lesioni mucosali non polipoidi (p=0.041). Nel nostro studio, probabilmente, le cause della mancata identificazione US delle irregolarità parietali maligne erano l’oscuramento della lesione dall’esordio clinico della neoplasia in colecistite acuta litiasica (in 5 pazienti) e le dimensioni1cm in presenza di litiasi non complicata (in 2 pazienti). La dimensione della lesione parietale0.5cm non escludeva la loro natura neoplastica. Attualmente la prevenzione e la diagnosi di GBC è basata sul precoce riscontro e trattamento delle lesioni polipoidi potenzialmente evolutive nell’arco di circa 15 anni.Probabilmente la colecistectomia precoce in tutti i pz con PLG di diametro1cm, isolate o associate a calcoli, sintomatici e asintomatici, può contribuire alla riduzione dell’incidenza del GBC.

Deficiency of growth hormone (GH) in absence of pituitary injuries is one of the causes of short stature and of the non organic failure to thrive (NOFTT) condition. Advances in developmental psychology have highlighted the role of emotions and caregiving behaviors in the organization of child’s personality and psychobiology, with the mother-son attachment bond being considered a fundamental developmental experience. The objective of the present preliminary study was to assess whether there are significant correlations between attachment patterns and GH levels in a sample of subjects with NOFTT.Overall, 27 children (mean age 9.49±2.63 years) with NOFTT were enrolled. Perceived attachment security was assessed through the Security Scale (SS) and its subscales focused on maternal and paternal security. Pearson partial correlation was used to test associations between GH levels and SS measures adjusting for confounding factors (i.e. age, gender and body mass index).Across all subjects, GH was significantly positively correlated with general security (r=0.425; p=0.038) and maternal security (r=0.451; p=0.027) and not significantly correlated with paternal security (r=0.237; p=0.264).These findings preliminarily suggest that the association between GH levels and perceived attachment security may play a role in the pathophysiology of NOFTT and add to the accumulating evidence that attachment patterns may be related with specific psychoendocrine underpinnings.

We compared the outcome of elective laparoscopic cholecystectomy (LC) in a teaching hospital and a private communityhospital to assess the impact of the involvement of residents.The following parameters were studied prospectively in patients who underwent elective LC during the period from September 2014 to February 2016 in a teaching university hospital (group A) and in a private community hospital (group B): age, sex, body mass index (BMI), comorbidities, American Society of Anaesthesiologists (ASA) score, length of surgery from skin incision to skin closure, use of drain, 30-day perioperative morbidity and mortality, and length of postoperative hospital stay.The group A consisted of 93 elective LC and the group B of 167 elective LC. Operative time was significantly longer in group A. Intraoperative complications were similar and no conversion was necessary in both groups. An increased rate of postoperative complications was observed in group A. All postoperative complications were managed with conservative therapy. No mortality occurred. At logistic regression analysis, the only factor favouring the occurrence of complications was the hospital type.Our study shows that elective LC can be performed in a teaching hospital with comparable intraoperative morbidity and increased postoperative complications. The greater rate of morbidity found in the teaching hospital may be due to an increased vigilance linked to the presence of residents and not to the lack of expertise.

An increasing number of foreigners was observed in Italy even among chronic dialysis patients. We compared demographic, clinical, treatment characteristics and survival probability between groups of Italian and foreign patients with chronic dialysis in Lazio.We analysed data from the Lazio Dialysis and Transplantation Registry from 2004 to 2012 (4,076 prevalent chronic dialysis patients in 31-12-2012). Among 7,970 incident patients, we evaluated, by country of birth, survival probability by using Kaplan-Meier method and mortality risk, through multiple Cox regression.We observed an increase of foreigners among chronic dialysis patients in Lazio from 2004 (4.4%) up to 2012 (7.6%, test for trend: p0,001). Compared with Italians, foreign patients were younger (53.816.3 vs. 68.713.6) and more frequently: women (42.7% vs. 37.7%), HbsAg-positive (18.1% vs. 13.9%), not vaccinated if HBV susceptible (26.8% vs. 20.9%), late referral (21.6% vs. 12.9%) and suitable for kidney transplantation (21.7% vs. 9.9%). Foreigners compared with Italians had higher survival probability at 1 year (91.9% vs. 84.7%) and 5 years (74,6% vs. 51,5%) after chronic dialysis has been started. We observed a lower mortality risk (HR=0.71;IC95%:0.58-0.87) among foreign patients even after adjustment for many potential confounding factors. Our findings suggest that health status and treatment of end stage renal disease, including access to kidney transplantation, were similar between groups of Italian and foreign patients in Lazio. Observed differences in patients' characteristics were probably attributable to younger age of foreigners. However, further analyses are needed to fully explain higher survival probability in chronic dialysis among foreigners compared with Italians.

As thyroid hormones are essential for normal pubertal growth and sexual development, TSH, free T₃ (FT₃) and free T₄ (FT₄) levels undergo progressive modification during childhood and puberty.To establish thyroid hormone reference ranges in pre-pubertal children, pubertal adolescents, and adults and to evaluate any differences in thyroid function between overweight and normalweight pubertal subjects.Chemiluminescent microparticle immunoassay was used to analyze TSH, FT₃ and FT₄ concentrations in serum samples from 508 children and adolescents aged 6 to 18 yr and 100 healthy adults aged 30 to 60 yr, and from 68 overweight pubertal adolescents. As data were not normally distributed, we compared them through non-parametric tests for independent samples and the reference ranges were assumed to lie between the 2.5th and 97.5th percentile.We found a progressive and significant reduction in TSH, FT₃, and FT₄ levels in the three groups with increasing age. TSH levels were significantly higher in overweight patients than in the normal-weight group, but there were no significant differences for FT₃ or FT₄.This study revealed significant differences in levels of thyroid hormone between different age groups and allowed us to establish normal reference ranges for pre-pubertal children between 0.87-5.19 mIU/l for TSH, 4.75-8.59 pmol/l for FT₃, and 13.09-20.61 pmol/l for FT₄, and for pubertal adolescents between 0.76- 4.51 mIU/l for TSH, 4.26-8.46 pmol/l for FT₃ and 10.94-19.09 pmol/l for FT₄.