A Case of Congenital Partial Nephrogenic Diabetes Insipidus

The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI has now been linked to over 128 different mutations in diverse coding regions of the AVP receptor 2(AVPR2) gene. The functional effects of these mutations vary from complete loss of responsiveness to a simple shift to the right in the dose response curve. We report a case of congenital partial NDI, with transversion of A to G at codon 280 of the AVPR2 gene, resulting in a subsequent change of amino acid from tyrosine to cysteine, and that has been effective with hydrochlorothiazide and high dose of DDAVP.

Effect of Growth Hormone on Death of Sertoli Cell / 대한소아내분비학회지

PURPOSE: Growth hormone(GH) receptors have been detected in Sertoli cells and clinical observations suggested the involvement of GH action(either indirectly via IGF-I or directly) on testicular function. This study is aimed at assessing the effect of GH on cell death during Sertoli cell culture. METHODS: Sertoli cells(TM4, mouse, male, ATCC, USA) were cultured by using DMEM(Dulbecco' Modified Eagle' Medium, Biowhitteker, USA) and Fetal Bovine Serum(10%, GIBCO BRL, USA) with or without human recombinant growth hormone(Eutropin, LGCI, Korea) of different concentrations(10, 50, 100, 500 microgram/mL of media), in 34degress C, 5% CO2 incubator. After cultivation during 5 days, Sertoli cells were examined under light microscope(x400). RESULTS: Number of survival Sertoli cell was remarkably increased in the GH treated(50 microgram/mL in media) group(62.6+/-12.4) compare to control(22.4+/-4.8)(P<0.05). Degree of survival Sertoli cell was increased proportionaly until 50 microgram/mL in concentration of GH in media, but decreased in higher than it. CONCLUSION: GH has the protective effect on death of Sertoli cell and it depends on GH concentration.