Introduction: Mutations of the human GNRH1 gene are an extremely rare cause of normosmic idiopathic hypogonadotropic hypogonadism (nIHH), with only 6 mutations so far described. Patients: As part of a larger study, families with IHH were screened for mutations in genes known to be associated with IHH. In family 1, a 15-year and 9-month-old boy first presented during infancy with micropenis and bilateral cryptorchidism. His pubic and axillary hair is at stage 4 and 2, respectively. His testes are 1 ml bilaterally, and his stretched penile length is 3.6 cm. In family 2, a 19-year and 2-month-old man was referred because of absence of secondary sexual characteristics. His 13-year and 8-month-old sister did not have any breast development. Results: In 3 patients from 2 independent families we identified GNRH1 mutations. In the proband from family 1, a homozygous 1-base deletion (c.87delA) leading to a frameshift mutation (p.G29GfsX12) was identified. In family 2, the affected siblings had a novel homozygous mutation of c.G92A leading to p.R31H. Conclusion: Both mutations in these families are located in the region encoding the decapeptide and in the loci where the mutations have been described before. Therefore, these areas can be considered as mutational hot spots, indicating priority for routine diagnostic gene mutation analysis.

Background/aim: Peritoneal dialysis (PD) is generally considered the practical dialysis modality for neonates in the treatment of acute kidney injury (AKI) and metabolic disturbances. The aim of this study was to evaluate the indications, complications, and outcomes of PD between January 2011 and December 2016. Materials and methods:This study included all 56 neonates that underwent PD over six years in our neonatal intensive care unit (NICU). A retrospective chart review was performed for all patients in our institution. Results:The incidence of PD was 1.32% (56/4230 patients) during this period. Mean birth weight of the patients was 2267.77 ± 1060.63 (540-5050) g. Thirty-four (60.7%) patients were premature. Fourteen patients (25%) were in the postoperative period of cardiac surgery due to congenital cardiac defects, fourteen patients (25%) were diagnosed with metabolic diseases, one patient had hypoxic ischemic encephalopathy, and another patient had severe pulmonary hypertension. Conclusion:In the acute setting of a neonatal intensive care unit, PD performed in a neonate provides a technically simple method of steady fluid, solute removal, and correction of electrolyte abnormalities. A trocar catheter appears safe even in premature babies, and closed three-way stopcock system seems to be reliable at the bedside in NICUs.