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In neuroendocrine system the increase in oxidative status is produced by a glucocorticoid-dependent and transcriptional increase in pro-oxidative drive, with concurrent inhibition of the antioxidant defense system, ultimately leading to increased neuronal cell death. Functional hypothalamic disturbances and neuroendocirne aberrations have both short and long term consequences for reproductive health. Understandably, an impaired or diminished hypothalamic-pituitary-ovarian axis leads to anovulation and hypoestrogenism. Anovulation is directly linked to the neurohormonal and hormonal background of Functional Hypothalamic Amenorrhea. Impairment of pulsatile Gonadotropin Releasing Hormone secretion causes the impairment of pulsatile Lutenizing Hormone (LH) and Follicle Stimulating Hormone (FSH) secretion. The importance of oxidative stress in various pituitary disorders suggesting a possible clinical usefulness of antioxidant molecules like the lipophilic antioxidant Ubiquinol. Coenzyme Q10 or Ubiquinol is an essential part of the cell energy-producing system of mitochondria. However, it is also a powerful lipophilic antioxidant, protecting lipoproteins and cell membranes from autooxidation. Due to these unique actions Ubiquinol is used in clinical practice as an antioxidants for neurodegenerative diseases. So to identify the role of Ubiquinol on reproductive hormones FSH and LH, we have included 50 infertile patients of age group of 20-40, which are mostly amenorrhic. Out of 50 only 30 patients were in continuous follow up after supplementing them with 150 mg of Ubiquinol every day for 4 months. The hormonal levels were estimated by Enzyme Linked Immuno Sorbent Assay technique at follicular phase. The result suggests that FSH concentration is increased up to three times (from 3.10 ± 2.70 to 10.09 ± 6.93) but remains within the normal limit (P \ 0.05). LH values were found doubled (P \ 0.05) than its normal range (from 14.83 ± 10.48 to 27.85 ± 22.30). The Prolactin values were decreased while Progesterone values were high but not in the significant range (P [ 0.05). The supplementation of 150 mg of Ubiquinol may reduce the oxidative stress in neuroendocrine system which further improves the function of diminished HPA axis. Hence increased level of FSH and LH may be due to reduced oxidative stress by Ubiquinol.

We report the case of a 9-month infant who presented with failure to thrive and bony deformities, mimicking a ricket-like picture. Biochemical parameters showed hypercalcemia, low serum alkaline phosphatase, normal serum phosphorus, magnesium, and parathormone levels. Ultrasound revealed nephrocalcinosis. Clinical exome sequencing revealed infantile hypophophatasia with two compound heterozygous mutations in exon 6 (mutation being novel) and 12. To the best of our knowledge, compound heterozygous mutations in exon 9 and exon 12 have presented with pyridoxine responsive seizure (PRS) along with hypophosphatasia (HPP). This is the third case of infantile HPP reported from India, but with a novel mutation who had not yet manifested with PRS.