Background Blood pressure (BP) is a key modifiable risk factor for patients with CKD, with current guidelines recommending strict control to reduce the risk of both progression of CKD and cardiovascular disease. Trials of BP lowering require multiple visits to achieve target BP which increases the costs of such trials, and in routine care BP measured in clinic may not accurately reflect usual BP. Objective We sought to assess whether a telemonitoring system for BP (using a Bluetooth-enable BP machine which could transmit BP measurements to a tablet device which had a bespoke app to guide measurement of BP and collect questionnaire data) was acceptable to patients with CKD, and whether patients would provide sufficient BP readings to assess variability and guide treatment. Methods 25 participants with CKD were trained to use the telemonitoring equipment, asked to record BP daily for 30 days, attend a study visit, and then record BP on alternate days for the next 60 days. They were also offered a wrist-worn applanation tonometry device (BPro) which measures BP every 15 minutes over a 24 hour period. Participants were given questionnaires at the one-month and three-month time points, derived from the System Usability Scale and Technology Acceptance Model. All eligible participants completed the study Results Mean age was 58 (SD 11) years and mean eGFR was 36 (SD 13) mL/min/1.73m2. 13 out of 25 (52%) participants provided >90% of expected data and 18 out of 25 (72%) provided >80% expected data. The usability of the telemonitoring system was rated highly with mean scores of 84.9/100 (SE 2.8) after 30 days and 84.2/100 (SE 4.1) after 90 days. The coefficient of variation (CV) for variability of telemonitoring systolic BP was 9.4% (95% confidence interval [CI] 7.8 to 10.9), compared to 7.9% (95% CI 6.4-9.5) for the BPro device (P=0.05) (and 9.0% over one year in a recently completed trial with identical eligibility criteria), indicating that most variation in BP is short-term. Conclusions Telemonitoring is acceptable to patients with CKD and provides sufficient data to inform titration of antihypertensive therapies in either a randomized trial setting (comparing different targets BPs) or routine clinical practice. Such methods could be employed in both scenarios and reduce costs currently associated with such activities. Registration ISRCTN13725286

SummaryThis case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic–pituitary–gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management.Learning points:Clinical endocrine problems in Lowe syndrome has been reported, but has focused on abnormalities in adolescence and young adulthood: pubertal delay and infertility.We present an infant with isolated LH elevation at baseline and on GnRH stimulation testing who also had bilateral impalpable testes.Early testing of the HPG axis in patients with Lowe syndrome may help predict gonadal abnormalities from a younger age, which will enhance the overall case management into adolescence.

A 25-year-old man presented generally unwell to the emergency department. Initial assessment identified systemic inflammatory response syndrome markers with an insect bite as a potential source of infection and he was treated for presumed sepsis. Tachycardia persisted and baseline thyroid function testing showed undetectable free thyroxine and thyroid-stimulating hormone (TSH), prompting further endocrine investigation. Triiodothyronine (T3) was markedly raised with normal TSH receptor antibodies, and the patient later confessed to supplementary testosterone and T3 use as part of bodybuilding activities. Following counselling, thyroid function normalised and the patient returned to his usual health. This case describes the diagnostic work up in a case of persistent tachycardia caused by T3 supplementation, demonstrating the potential for endocrine supplementation by bodybuilders which may be poorly understood and recognised by clinicians. T3 supplementation should be considered and a thorough drug history obtained in bodybuilders presenting with symptoms of thyrotoxicosis and deranged thyroid function tests.