We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).

BackgroundObesity has become a common human disorder associated with significant morbidity and mortality and adverse effects on quality of life. Sequence variants in two candidate genes, FTO and UCP-1, have been reported to be overrepresented in obese Caucasian population. The association of these genes polymorphisms with the obesity phenotype in a multiethnic group such as the Brazilian population has not been previously reported.MethodsTo assess the putative contribution of both FTO and UCP-1 to body mass index (BMI) and cardiovascular risk we genotyped SNPs rs9939609 (FTO) and rs6536991, rs22705565 and rs12502572 (UCP-1) from 126 morbidly obese subjects (BMI 42.9 ± 5.6 kg/m2, mean ± SE) and 113 normal-weight ethnically matched controls (BMI 22.6 ± 3.5 kg/m2, mean ± SE). Waist circumference, blood pressure, glucose and serum lipids were also measured. Each sample was also genotyped for 40 biallelic short insertion/deletion polymorphism (indels) for ethnic assignment and to estimate the proportion of European, African and Amerindian biogeographical ancestry in the Brazilian population.ResultsCases did not differ from controls in the proportions of genomic ancestry. The FTO SNP rs9939609 and UCP-1 SNP rs6536991 were significantly associated with BMI (p= 0.04 and p<0.0001 respectively). An allele dose dependent tendency was observed for BMI for rs6536991 sample of controls. No other significant associations between any SNP and hypertension, hyperlipidemia and diabetes were noted after correction for BMI and no significant synergistic effect between FTO and UCP-1 SNPs with obesity were noted. There was not an association between rs9939609 (FTO) and rs6536991 (UCP-1) in with maximum weight loss after 1 year in 94 obese patients who underwent bariatric surgery.ConclusionOur data are consistent with FTO rs9939609 and UCP-1 rs6536991 common variants as contributors to obesity in the Brazilian population.

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Objective To study a rare case of spontaneous ovarian hyperstimulation syndrome in a naturally conceived pregnancy associated with overt hypothyroidism. Design Case report. Setting Endocrinology private practice. Patient(s) A 32-year-old woman who was 13 weeks pregnant with bilaterally enlarged ovaries presumed to be secondary to hypothyroidism. Intervention(s) Administration of levothyroxine and titration of the dose. Main Outcome Measure(s) Regression of signs and symptoms of spontaneous ovarian hyperstimulation syndrome after 12 weeks of therapy. Result(s) The patient was diagnosed with severe hypothyroidism, as confirmed by her elevated thyroid-stimulating hormone level. Ultrasound evaluation revealed ovarian enlargement secondary to multiple contiguous cysts with anechoic content. The patient was administered levothyroxine 175 μg/day. Results of hormonal studies demonstrated thyroid function normality at week 12 after treatment. Incomplete regression of ovarian cysts was also noticed within this period. At week 37, the patient developed preeclampsia, and cesarean delivery was recommended. An 8-month postpartum ultrasound evaluation revealed complete regression of the cysts. Conclusion(s) Spontaneous ovarian hyperstimulation syndrome secondary to hypothyroidism may be the cause of ovarian enlargement, and levothyroxine replacement seems an appropriate primary therapeutic option. Proper endocrinological assessment of patients is recommended as it may avoid unfavorable outcomes.

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