Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.

Summary: X-linked hypophosphatemic rickets (XLH), the most prevalent form of inherited hypophosphatemic rickets, is caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog, X-linked (PHEX). This case series presents 14 cases of XLH from Gulf Cooperation Council (GCC) countries. The patients' medical history, biochemical and radiological investigative findings, as well as treatment responses and side effects from both conventional and burosumab therapy, are described.

A Practical Approach to the Management of Residual Cardiovascular Risk: United Arab Emirates Expert Consensus Panel on the Evidence for Icosapent Ethyl and Omega-3 Fatty Acids.

Purpose: Patients with hyperlipidemia treated with statins remain at a residual cardiovascular (CV) risk. Omega-3 polyunsaturated fatty acids hold the potential to mitigate the residual CV risk in statin-treated patients, with persistently elevated triglyceride (TG) levels.

Method: We reviewed the current evidence on the use of icosapent ethyl (IPE), an omega-3 fatty acid yielding a pure form of eicosapentaenoic acid.

Granulomatous hypophysitis: rare disease with challenging diagnosis.

Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. Diagnosis is only confirmed by histopathology examination. Trans-sphenoidal surgery is considered diagnostic when descent tissue specimen is obtained and therapeutic by decompressing optic pathway and the sella.

Driving and diabetes mellitus in the Gulf Cooperation Council countries: Call for action.

The aim of the present article is to increase awareness concerning safe driving for patients with diabetes in the Gulf Cooperation Council (GCC) countries and to provide recommendations concerning the management of these patients. The cognitive, motor, and sensory skills required for driving can be adversely affected by diabetes as well as the side effects of anti-diabetic medications, particularly hypoglycemia. The prevalence of diabetes in the GCC countries is among the highest in the world.

Spontaneous recovery of adrenal insufficiency in POEMS syndrome.

POEMS syndrome is a rare multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. We report the first case of spontaneous recovery of adrenal insufficiency in a patient with POEMS syndrome treated with autologous hematopoietic cell transplantation. We conclude that in patients with POEMS syndrome, adrenal insufficiency should be regularly assessed for potential recovery.

Spontaneous singleton and twin pregnancy in two patients with polycystic ovary syndrome and type 2 diabetes following treatment with metformin combined with rosiglitazone.

Two women, a Saudi Arab and a Caucasian, aged 28 and 41 years, had a long history of polycystic ovary syndrome (PCOS) and primary infertility, which was refractory to various treatment modalities. Both later developed type 2 diabetes, managed initially with metformin; rosiglitazone was added later to improve glycaemic control. Both conceived spontaneously, resulting in singleton and twin pregnancies giving birth to healthy babies.

The low-dose ACTH test does not provide a useful assessment of the hypothalamic-pituitary-adrenal axis in secondary adrenal insufficiency.

Objective: The 1 microg ACTH stimulation test has been introduced to improve the sensitivity of ACTH as a test of the integrity of hypothalamic-pituitary-adrenal axis (HPAA). This study aims to compare the sensitivity, specificity and diagnostic accuracy of the "low-dose" 1 microg ACTH (LDACTH) test and the "standard dose" 250 microg ACTH (SDACTH) test, with the overnight metyrapone test (OMT) which assesses the entire HPAA.

Design: A prospective evaluation of the performance of SDACTH and LDACTH screening tests in a diverse cohort of patients with possible adrenal insufficiency as routinely encountered in clinical practice using the OMT as the reference method.

Transient paraplegia as a presenting feature of aortic dissection in a young man.

This report describes a case of aortic dissection in a 32 year old man who presented with mild central chest pain and transient paraplegia. Complete recovery of paraplegia in aortic dissection has previously been reported but this is the first case report in which full resolution of the paraplegia occurred within half an hour of presentation. The case emphasises the importance of careful history taking and eliciting subtle clinical signs, which helped in arriving at the correct diagnosis in this unusual presentation.

Hyperprolactinaemia: analysis of presentation, diagnosis and treatment in the endocrine service of a general hospital.

The charts of 184 patients with clinically significant hyperprolactinaemia who presented to a teaching hospital between 1978-1995 were reviewed, 158 (86%) females and 26 (14%) males. Hyperprolactinaemia was due to a microadenoma or was idiopathic in 36.4%, drug induced in 16%, associated with a macroadenoma in 12%, due to epilepsy in 7%, with other causes each contributing 5% or less.

Gender difference in the response of growth hormone (GH)-deficient adults to GH therapy.

While individual hypopituitary patients undoubtedly benefit from growth hormone (GH) therapy, there is considerable variability in the response to treatment. Given the expense, possible lack of benefit, and potential risks associated with long-term therapy, we sought to identify characteristics potentially associated with a favorable response to GH replacement. Twelve GH-deficient adults (seven men and five women aged 35.

Decline in insulin-like growth factor I levels after clomiphene citrate does not correct hyperandrogenemia in polycystic ovary syndrome.

It is widely accepted that the action of clomiphene citrate (CC) is mediated through its antiestrogenic properties on the hypothalamic-pituitary axis. Although insulin-like growth factor I (IGF-I) enhances the thecal cell response to LH, and estrogen treatment is associated with a reduction in IGF-I levels, CC is known to decrease circulatory IGF-I levels in polycystic ovary syndrome (PCOS) patients. The impact of lowering IGF-I levels on androgen levels in PCOS is unknown.

Effects of nifedipine treatment on the renin-angiotensin-aldosterone axis.

Nifedipine is a commonly used agent in treating hypertension and angina because of its vasodilator properties. An inhibitory role of nifedipine on aldosterone (Aldo) biosynthesis has been documented in in vitro studies. This study was designed to examine the impact of a sustained release nifedipine formulation on Aldo biosynthesis and its clinical consequences.

Role of progesterone deficiency in the development of luteinizing hormone and androgen abnormalities in polycystic ovary syndrome.

The aetiology of polycystic ovary syndrome (PCOS) is unknown. It is uniquely characterized by oligomenorrhoea or amenorrhoea associated with normal or high oestrogen levels. This prospective clinical study was designed to examine the possible role of the lack of cyclical exposure to progesterone in the development of gonadotrophin and androgen abnormalities in PCOS.

Multiple spuriously abnormal thyroid function indices due to heterophilic antibodies.

A 57-year-old man with a history of liver fibrosis, portal hypertension and hypersplenism had thyroid function assessed because of weight loss. Free T4 (FT4), total T4 (TT4), total T3 (TT3) and TSH were all assayed by enhanced chemiluminescent immunoassay. This demonstrated elevation of all three hormones.

Premixed insulin preparations in pen syringes maintain glycemic control and are preferred by patients.

Objective: To examine the impact on glycemic control of substituting a range of premixed insulins for the standard treatment with patient-mixed insulin combinations. In addition, a pen-type syringe was substituted for the conventional insulin syringe, and the patients' preference was ascertained at the end of the study.

Research Design And Methods: Before the study, all patients had maintained a constant insulin dosage for 2 months.

The overnight single-dose metyrapone test is a simple and reliable index of the hypothalamic-pituitary-adrenal axis.

Objective: The ACTH stimulation test examines adrenal responsiveness but may not examine the entire hypothalamic-pituitary-adrenal (HPA) axis and requires parenteral administration. The cortisol response to hypoglycaemia provides an index of activity of the entire HPA axis but is demanding for patients and medical staff. The aim of the present study was to examine the performance of the overnight single-dose metyrapone test as it provides a simple alternative test for HPA axis function.

The prevalence of microalbuminuria and associated risk factors in a population with insulin-dependent diabetes mellitus.

The prevalence of microalbuminuria was studied in a clinic population of patients with insulin-dependent diabetes mellitus [IDDM] with disease duration longer than 5 years. 75 patients were included in the study, 23 patients (30.7%) had microalbuminuria and 2 patients (2.

Meningitis as a late complication of surgically and medically treated pituitary adenoma.

Objective: To report meningitis occurring as a late complication of both medical and surgical treatment of pituitary tumour.

Design: Two case reports.

Patients: One patient developed meningitis 9 years after she underwent transsphenoidal hypophysectomy for Nelson's syndrome.