Hydronephrosis during pregnancy: how to make a decision about the time of intervention?

AIM: To evaluate the role of doppler ultrasonographorin managing hydronephrosis during pregnancy. METHODS: The study included 27 pregnant patients with unilateral symptomatic persistent hydronephrosis (group 1) and 38 pregnant patients with physiological hydronephrosis of pregnancy (group 2). All pregnant patients underwent Doppler Ultrasonography to determine the Resistive Index (RI) and the difference between the RI of the corresponding and contralateral kidney (Delta Resistive Index = delta RI). RESULTS: There were no statistical differences between the two groups in terms of age, mean gestational period, or number of pregnancies. The mean renal RI of the hydronephrosis side was 0.68 ± 0.05 in group 1 and 0.60 ± 0.05 in group 2 (p less than 0.001). The mean delta RI of group 1 was significantly higher than the mean delta RI of group 2 (0.07 ± 0.03 versus 0.02 ± 0.01, respectively, p less than 0.001). The RI and delta RI were considered positive with values of more than 0.70 and more than 0.04, respectively, and the RI was sensitive in 44.4% and specific in 92.1% for intervention treatment. The corresponding values for delta RI were 88.9% and 89.5%. The positive predictive value and negative predictive value of delta RI for intervention were 85.7% and 91.9%, respectively. CONCLUSION: It is much better to consider delta RI than RI when deciding on interventional treatment in hydronephrosis during pregnancy.

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

CONTEXT: Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD). OBJECTIVE: This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of severe short stature in a large consanguineous family with IGHD. PATIENTS AND METHODS: The index case presented with a hypoglycemic convulsion, following which eight members in two related consanguineous Turkish families were identified with IGHD. Homozygosity mapping identified the homozygous regions shared only among the affected individuals. Sanger sequencing of GHRHR, which resided in the shared homozygous region, was performed. In silico analysis of the pathogenic GHRHR variant was performed. RESULTS: The clinical presentation and hormonal analysis confirmed GH deficiency in all affected individuals. Magnetic resonance imaging scan of the pituitary gland showed anterior pituitary hypoplasia in five affected individuals in which the youngest was only 0.4 years old, but with normal pituitary size in three affected individuals. Homozygosity mapping showed two large homozygous regions on chromosome 7 shared only among affected individuals. Sanger sequencing of GHRHR gene present in one of these shared regions identified a novel homozygous missense mutation (p.C64G) segregating with the disease phenotype. In silico analysis predicted the mutation to be deleterious and disease causing. CONCLUSIONS: We describe a large consanguineous Turkish kindred with IGHD due to a novel homozygous missense GHRHR mutation. This is the first description of presentation with hypoglycemia and the earliest reported occurrence of anterior pituitary hypoplasia in patients with GHRHR mutation.

An unusual foreign body in urethra: nail clippers.

A 37-year-old mentally retarded male patient complained of voiding difficulties. Physical examination revealed a foreign body in the urethra. The foreign body was found to be nail clippers and was removed with open surgery. This case of self-inserted nail clippers in the urethra by the patient is the first published report to our knowledge.