A case series of Bardet-Biedl syndrome in a large Turkish family and review of the literature.

BACKGROUND AND AIM: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. We aimed to report a case series of Bardet-Biedl syndrome in a Turkish family and review the literature. PATIENTS AND METHODS: This family had 3 females and 4 males, totally 7 alive; 2 children (1 female and 1 male) had died. Parents were consanguineous. The first was a birth of twins and female sibling of these twins had congenital anal atresia and died when she was three-month old. Third (30 yr), 4th (28 yr) and 9th (19 yr) alive siblings were obese, blind and diabetic. We detected truncal obesity, postaxial polydactyly, cognitive impairment and hypogonadism. Rod-cone dystrophy was detected in ophthalmic examination. With these typical clinical findings, BBS was diagnosed. There was also a male member of the family which shared the same features of his affected brothers but he had died while he was eight months old. Marked glycosuria was determined and urine density was 1021 g/cm3. There was not any further endocrinological abnormality. Fasting blood glucose levels were changing between 290 and 452 mg/dl and the last glycated hemoglobine levels (A1c) were 9.3%, 11.2% and 12.8%, respectively. Diabetes mellitus and obesity were treated with diet, exercise, multiple daily insulin injections and metformine at the dose of 2000 mg/d. CONCLUSIONS: Although it is an infrequent condition due to autosomal recessive transmission, consanguineous marriage may increase the risk of emergence of BBS. Genetic counseling is a very important issue in the family of patients with BBS, in order to prevent new cases.

Minimally invasive focused parathyroidectomy without using intraoperative parathyroid hormone monitoring or gamma probe.

BACKGROUND: Minimally invasive parathyroidectomy (MIP) is widely used worldwide for the treatment of primary hyperparathyroidism (pHPT). It is usually combined with a perioperative adjunct for high success rate. AIM: To demonstrate that MIP can be successfully performed in a selected group of patients with presumabally solitary adenoma as the cause of pHPT without using any perioperative adjuncts. SETTINGS AND DESIGN: A prospective data analysis of two surgeons' series from a teaching hospital in Turkey. MATERIALS AND METHODS: Of the 47 patients referred with a diagnosis of pHPT during January 2004-May 2008, 30(63%) patients with sporadic pHPT with presumed solitary adenoma were included for analysis. These patients underwent MIP via focused lateral (n=24) or anterior (n=6) approach. Preoperative localization was done using 99 mTc-labelled sestamibi scan and ultrasonography. Only patients with concordant tests for single adenoma were selected for MIP. Serum parathyroid hormone and calcium levels were measured postoperatively and at follow-up visits. STATISTICAL ANALYSIS: Parametric data presented were analyzed with Excel XP (Microsoft, Redmond, WA, USA). RESULTS: Barring one patient, all other patients were initially biochemically cured by MIP. One patient remained hypercalcemic, who was found to have a second adenoma at the second operation. During a mean follow-up of 16 (3-55) months, all patients were normocalcemic with a mean serum calcium level of 9.4 (8.9-10.2) mg/dl. Parathormone levels were persistantly elevated only in one patient (3.4%). No postoperative permanent complication was encountered. CONCLUSION: The results of MIP achieved in high-volume endocrine surgery centers can be replicated in low-volume center without any intraoperative adjuncts, in patients with overt clinical pHPT and concordant results of sestamibi and ultrasound.