Assessment of ghrelin, GHS-R, GH, and neurohormones in human fetal pituitary glands and central nervous system: an immunohistochemical study.

The aim of this work was evaluation of expression of ghrelin and GHS-R1a receptor in somatotrops and in neuronal cells of brain tissue in the process of human fetal ontogenesis. Relations were also looked for between GHRH and SS in the pituitary and in the CNS neurones of the studied fetuses. The study was based on 8 pituitaries and 8 brains from fetuses in different periods of intrauterine life. The immunocytochemical technique was used. The presence of ghrelin, GHS-R was shown in the glandular part of the pituitary and CNS during the whole period of intrauterine life. Neurohormones in the stalk of the pituitary were found in fetuses from the 32nd week of pregnancy whereas in the CNS neurones these hormones could be detected throughout the whole period of intrauterine life. The results obtained suggest that stimulation of GH secretion by ghrelin is independent of the feedback concentration and these two hormones act like signals of metabolic balance. GH release by ghrelin in fetal life is independent of somatostatin. The hypothalamic-pituitary axis which regulates pulsatile GH release from the pituitary matures functionally in the third trimester of pregnancy independent of the previous anatomical differentiation

Assessment of ghrelin, GHS-R, GH, and neurohormones in human fetal pituitary glands and central nervous system: an immunohistochemical study.

The aim of this work was evaluation of expression of ghrelin and GHS-R1a receptor in somatotrops and in neuronal cells of brain tissue in the process of human fetal ontogenesis. Relations were also looked for between GHRH and SS in the pituitary and in the CNS neurones of the studied fetuses. The study was based on 8 pituitaries and 8 brains from fetuses in different periods of intrauterine life. The immunocytochemical technique was used. The presence of ghrelin, GHS-R was shown in the glandular part of the pituitary and CNS during the whole period of intrauterine life. Neurohormones in the stalk of the pituitary were found in fetuses from the 32nd week of pregnancy whereas in the CNS neurones these hormones could be detected throughout the whole period of intrauterine life. The results obtained suggest that stimulation of GH secretion by ghrelin is independent of the feedback concentration and these two hormones act like signals of metabolic balance. GH release by ghrelin in fetal life is independent of somatostatin. The hypothalamic-pituitary axis which regulates pulsatile GH release from the pituitary matures functionally in the third trimester of pregnancy independent of the previous anatomical differentiation

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background

Introduction: X-linked hypophosphataemic rickets (XLHR) is the most common form of hypophosphataemic rickets (HR), which is caused by mutations in the PHEX gene. The aim of this work was to investigate the clinical phenotype, therapeutic strategies, and molecular background of HR in children hospitalised in our clinic. Material and methods: Eleven patients aged 5.7–18.25 years were included in this study. Molecular analysis was performed using polymerase chain reaction (PCR) and direct sequencing. The PHEX gene was examined in all of the patients, whereas the FGF23 gene was analysed in 5 patients. All of them were treated with alphacalcidol and phosphorus, and 3 were additionally treated with recombinant human growth hormone (rhGH). Results: The mean age at HR diagnosis was 4.05 ± 3.35 years. The mean htSDS was –2.99 ± 1.19. In 2 of the 3 patients treated with rhGH the height gain was +0.4SD and +0.3SD, respectively. In 10 of 11 patients, PHEX gene mutations were found. In 2 children, novel mutations in the PHEX gene were identified: c.325_326dupCA, N110Ifs*7 in one patient and c.899_900delTG, M300Kfs*4 in the remaining one, which coexisted with a known polymorphism c.1769-10C > T, rs3752433. In one patient, a novel deletion of exon 14 and 2 polymorphisms were detected: c.1646-46T > C, g.180417T > C, rs3213493 in intron 15 (known) and g.189156C > T in intron 17 (novel). Conclusion: We report 3 novel mutations in the PHEX responsible for HR. Additionally, this study reports the effects of rhGH therapy for growth promotion in HR