Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

OBJECTIVE: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort. METHODS: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed. RESULTS: The average age of our patients was 17.2 years (11-31 years). They were all referred for short stature and pubertal delay, except for the fourth sister who presented spontaneous puberty with the integrity of the pituitary axis and the presence of an X ring chromosome. Karyotype analysis showed monosomy in 3 cases and a mosaic TS in the 3 remaining cases, including one patient with abnormal X chromosome structure. Somatotropic and corticotropic deficiencies were confirmed in 2 sporadic cases while the gonadotropic and thyrotropic axes were spared. In contrast; familial cases were consistently affected by the integrity of the corticotropic axis. MRI showed pituitary hypoplasia in all familial cases and pituitary stalk interruption syndrome in only one sporadic case. No correlation was found between the chromosome formula and the anterior pituitary involvement. CONCLUSION: Co-segregation of congenital Hypopituitarism with pituitary hypoplasia and X chromosome aberrations could imply a molecular anomaly of transcription factors responsible for the differentiation and development of pituitary cells such as PROP1, POUF1, Hesx1, Lhx3, Lhx4. The etiopathogenic link between X chromosome abnormalities and the occurrence of Hypopituitarism remains unclear; however, the progress of molecular biology may clarify the interrelation between transcription factors and sex chromosome segregation abnormalities.

[Pituitary hyperplasia due to primary hypothyroidism]. / Hyperplasie hypophysaire secondaire à une hypothyroïdie périphérique.

INTRODUCTION: Pituitary hyperplasia due to primary hypothyroidism is rare and underdiagnosed. CASE REPORT: We report an 18-year-old patient referred for a pituitary mass revealing primary hypothyroidism. Biological parameters confirmed severe primary hypothyroidism and hyperprolactinemia. Outcome was favorable with l-thyroxin supplementation resulting in TSH and prolactin levels normalization and pituitary mass resolution. CONCLUSION: Pituitary hyperplasia due to primary hypothyroidism, although rare, should be recognized to avoid unnecessary surgery leading to irreversible complications.

A prospective evaluation of CT features predictive of intra-abdominal hypertension and abdominal compartment syndrome in critically ill surgical patients.

AIM: The aim of this study was to validate the computed tomography (CT) features of intra-abdominal hypertension (IAH) by relating them to the clinical measurement of intra-abdominal pressure (IAP) in critically ill surgical patients. MATERIALS AND METHODS: The intra-vesical pressure was measured to reflect IAP in 24 critically ill patients. CT examinations obtained within 24h of IAP measurement were reviewed and scored independently by two consultant radiologists. Each CT examination was scored for the seven proposed features of IAH. Images obtained during the presence of IAH were compared with those obtained in the absence of IAH. RESULTS: Forty-eight abdominal CT examinations were evaluated, of which 18 (38%) were obtained in the presence of IAH, whereas eight (17%) were obtained in the presence of abdominal compartment syndrome (ACS). At CT, the round belly sign (RBS) and bowel wall thickening with enhancement (BWTE) were significantly more frequently detected during the presence of IAH than when the IAP was less than 12 mmHg (78 versus 20% of examinations, p<0.001 and 39 versus 3% of examinations, p=0.003, respectively), but only BWTE was significantly associated with the presence of ACS (40 versus 11% of examinations, p=0.047). CONCLUSION: The presence of RBS and BWTE on CT images of critically ill surgical patients should alert clinicians to the possibility of presence of IAH and ACS, and prompt measurement of the IAP and consideration of suitable interventions.

Acute pancreatitis: an under-recognized risk of percutaneous transhepatic distal biliary intervention.

OBJECTIVE: Percutaneous transhepatic biliary intervention (PTBI) plays an important role in the management of biliary obstruction, and this may be complicated by acute pancreatitis. The aim of this study was to assess the incidence of acute pancreatitis following PTBI. PATIENTS AND METHODS: Patients who underwent PTBI between January 1992 and December 2003 in a tertiary referral centre were identified from the hospital database. Patients who did not have their amylase measured post-procedure were excluded, as acute pancreatitis might have been missed. Acute pancreatitis was defined as hyperamylasaemia of three times or more above normal in association with abdominal pain. RESULTS: Over a 12-year period, 331 patients underwent 613 procedures. Serum amylase was measured after 134 procedures (21.9%) and was elevated in 26 of those (19.4%). There was no difference in the frequency of hyperamylasaemia between proximal and distal PTBI (14/73 [19.2%] vs 12/61 [19.7%] procedures, p=NS). However, acute pancreatitis developed after 4 of 61 (6.6%) distal PTBI (stent, n=3; internal-external catheter insertion, n=1) but not after proximal PTBI (cholangiography or external drainage) (p=0.041). The attacks were mild in three of the four patients. No pancreatitis-related deaths occurred. CONCLUSION: The risk of acute pancreatitis after distal PTBI is under-recognized and should be considered as a consent issue in patients scheduled for distal PTBI and when post-procedure abdominal pain ensues.

Therapeutic, prophylactic, and preresection applications of laparoscopic gastric and biliary bypass for patients with periampullary malignancy.

BACKGROUND: Laparoscopic bypass surgery for the palliation of gastric and biliary obstruction is associated with a rapid recovery. This study aimed to extend its application to other aspects in the management of patients with periampullary cancer. METHODS: Between 2001 and 2004, 21 patients (median age, 68 years) underwent laparoscopic gastric (n = 8), biliary (n = 5), and combined gastric and biliary (n = 8) bypass. In addition to its therapeutic role (n = 12), indications included a concomitant prophylactic gastric (n = 3) and biliary (n = 2) bypass as well as pre- 1 Whipple's relief of deep jaundice at the time of staging laparoscopy (n = 3). Construction of the biliary bypass to the gallbladder (n = 11) or bile duct (n = 2) was based on preoperative imaging. RESULTS: All procedures were completed laparoscopically. The median operating times for gastric, biliary, and combined bypass were 75, 60, and 130 min, respectively. The addition of a prophylactic bypass did not significantly prolong the operating time, as compared with a single therapeutic bypass. One patient died postoperatively of aspiration pneumonia. The postoperative hospital stay (median, 4 days) was not significantly influenced by the type of bypass. No recurrence of or new obstructive symptoms developed during the follow-up period after a therapeutic or prophylactic bypass. CONCLUSIONS: Applications of laparoscopic gastric and biliary bypass can safely be expanded to include a prophylactic role and preresection relief of obstructive jaundice. Prophylactic bypass surgery does not prolong operating time or hospital stay significantly and prevents future onset of obstructive symptoms.

The use of ultrasound to demonstrate small bowel polyps in a patient with Peutz-Jeghers syndrome.

A 21-year-old woman presented to the accident and emergency department with a 2-day history of lower abdominal pain. Her lips had the stigma of melanosis. Previously, she had received a diagnosis of Peutz-Jeghers syndrome, although no polyps had been detected in small and large bowel barium studies performed approximately 8 years before. Clinically, the patient had mild deep lower abdominal tenderness, and a mass was palpable in the suprapubic region. Urgent ultrasound showed ileoileal intussusception and small polyps in the lumen of the small bowel. At laparotomy, ileoileal intussusception was confirmed. It was not possible to reduce it because of nonviable small bowel, so 20 cm of the ileum, including the intussusception, was excised. After this, intraoperative enteroscopy was performed, showing further polyps in the small bowel distal and proximal to the intussusception, which were excised locally. Only a few reports in the literature describe ultrasound used to diagnose to condition. Intraoperative enteroscopy has been recommended as the treatment of choice because it allows identification of polyps that previously would have been missed.