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Congenital adrenal hyperplasia (CAH) is a group of inherited autosomal recessive disorders characterized by a defect in enzymes involved in biosynthesis of cortisol, aldosterone or both. We report two patients presented with recurrent haematuria with two different forms of CAH who presented late and reared as males. We describe the challenges posed on managing them and how the quality of life will be improved by offering hormonal and surgical remedies without changing or reassigning the gender to females.

Introduction: The presence of elevated TSH with high free T4 is considered as an abnormal thyroid function test. This may be due to false elevation of serum T4 associated with autoantibodies to T4. We report a case that presented with high serum freeT4 and TSH associated with autoantibodies to T4. Case presentation: A 40 year old female patient presented with tiredness and sweating. She was diagnosed with primary hypothyroidism two years ago based on elevated TSH. She was treated with thyroxine 50mcg per day for 6 months and then she was defaulted. Examination revealed a thin lady with BMI of 18.5 Kgm-2 with a mild goiter. She was otherwise clinically euthyroid. Investigations revealed abnormal thyroid function test (TFT) with TSH of 43.6mIU/l and freeT4 of 3.06ng/dl. Her TFT was repeated on three laboratories which showed elevated TSH and upper normal to elevated freeT4. She had high titres of anti thyroid peroxidase (TPO antibodies) > 1300mIU. Her thyroid scan revealed small multinodular goiter and fine needle aspiration cytology confirmed Hushimoto’s thyroiditis. In view of the clinical findings the following possibilities were considered; assay interference, TSHoma and thyroid hormone resistance. TSHoma seemed less likely due to normal pituitary gland on MRI and normal SHBG. Further analysis of the sample was done with comparison between one step and two step methods using Cantaur and Delfia assays respectively. There was no evidence of assay interference in respect of TSH (38.73 vs 44.1mIU/l) and free T3 (3.9 vs 5.3pmol/l), however the freeT4 measurements were not consistent across the two platforms (25.6 vs 11.8 pmol/l). In addition, the total T4 measurement was elevated (219nmol/l; normal range 69-141) with 32% recovery after PEG treatment. Taken together, the results were suggestive of autoimmune hypothyroidism with evidence of freeT4 (and total T4) assay interference due to anti-T4 autoantibodies. The patient was treated with thyroxine and thereafter monitored using a TSH assay alone to guide treatment adequacy. Conclusions: Clinicians must be aware of possible assay interference including the measurement of freeT4 in the differential diagnosis of abnormal TFT that do not fit the patient’s clinical presentation.

Primary amenorrhoea is one of the common reproductive disorders affecting females and it could be due to may causes including structural, functional and endocrine abnormalities. We reported three young women presented with primary amenorrhoea, where the investigations confirmed the diagnosis of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) in all three cases. Our objective of reporting these case series was to highlight the importance of careful evaluation the of all patients with primary amenorrhoea and to avoid unnecessary oestrogen treatment.

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A prismatic type layered Na 2/3 Ni 1/3 Mn 2/3 O 2 cathode material for a sodium ion battery is prepared via two different methods viz., the solid state and sol-gel method with dissimilar surface morphology and a single phase crystal structure. It shows tremendous electrochemical chattels when studied as a cathode for a sodium-ion battery of an initial specific discharge capacity of 244 mAh g -1 with decent columbic efficiency of 98% up to 250 cycles, between the voltage range from 1.8 to 4.5 V (Na + /Na) at 0.1 C under room temperature. It is much higher than its theoretical value of 173 mAh g -1 and also than in the earlier reports (228 m Ah g -1 ). The full cell containing this material exhibits 800 mAh g -1 at 0.1 C and withstands until 1000 cycles with the discharge capacity of 164 mAh g -1 . The surpassing capacity was expected by the anionic (oxygen) redox process, which elucidates the higher capacity based on the charge compensation phenomenon.

In the present study, Li 2 FeSiO 4 (LFS) cathode material has been prepared via a modified polyol method. The stabilizing nature of polyol solvent was greatly influenced to reduce the particle size (~50 nm) and for coating the carbon on the surface of the as-mentioned materials (~10 nm). As-prepared nano-sized Li 2 FeSiO 4 material deliver initial discharge capacity of 186 mAh·g -1 at 1C with the coulombic efficiency of 99% and sustain up to 100 cycles with only 7 mAh·g -1 is the difference of discharge capacity from its 1st cycle to 100th cycle. The rate performance illustrates the discharge capacity 280 mAh·g -1 for lower C-rate (C/20) and 95 mAh·g -1 for higher C-rate (2C).

Objective: Hypercalcaemia is an important cause of increased morbidity and mortality in patients with parathyroid carcinoma. Surgical resection is the mainstay of treatment but, equally, managing hypercalcaemia is of paramount importance. At present, few therapies have been shown to be effective in the most severe cases. This report describes the efficacy of denosumab in a patient with parathyroid carcinoma when conventional therapies had been shown to be relatively ineffective.SUBJECT, METHODS AND RESULTS: A 50-year-old man presented with symptomatic hypercalcaemia 1 year after the surgery for his parathyroid carcinoma. Investigations revealed raised serum calcium and parathyroid hormone concentrations consistent with the recurrence of the disease. Imaging failed to localise any surgically remediable foci. Medical management with loop diuretics, calcimimetics and bisphosphonates failed to provide a sustained response. Denosumab, as a monthly injection, led to a gradual decrement in his peak calcium concentrations with the values now persistently below 3 mmol/l., Conclusions: Denosumab, a fully human MAB that binds to the 'receptor activator of nuclear factor κB ligand (RANKL)', was shown to have a profound effect in modulating malignant hypercalcaemia. This medication should be considered as an effective option in patients with refractory hypercalcaemia secondary to parathyroid carcinoma., (© 2014 European Society of Endocrinology.)