International Journal of Endocrinology and Metabolism
Volume:19 Issue: 2, Apr 2021

Chronic kidney disease (CKD) is a rising public health concern that has detrimental effects on cardiovascular health and overall survival. Subclinical hypothyroidism (SCH) has been associated with poor outcomes in the general population. It is thought to be more prevalent in CKD subjects, and their coexistence may contribute to poor outcomes in these patients. We aimed to determine the prevalence of SCH in CKD.

Using data from the Tehran thyroid study, which is a prospective population-based cohort study, adult subjects with an estimated Glomerular Filtration Rate (eGFR) of 60 mL/min/1.73 m2 or less were selected for studying the prevalence of thyroid abnormalities, as well as other known cardiovascular risk factors.

Of 5,626 subjects recruited, 823 (14.6%) individuals had CKD. Individuals with CKD were older, heavier, had a higher prevalence of diabetes, higher serum thyrotropin, and thyroid peroxidase anti-body levels, but lower free thyroxine levels. The prevalence of SCH was 7.3% and 5.2% (P < 0.001) in kidney disease and non-kidney disease subjects, respectively. However, there was no difference in the risk of SCH between CKD and non-CKD subjects after adjustment for age, sex, BMI, smoking, and TPOAb (OR: 1.28; 95%CI, 0.89 - 1.83). None of the metabolic markers compared between the CKD subgroups of those with and without SCH remained statistically significantly different after adjusting for age and gender.

The prevalence of SCH was not higher in CKD after controlling for confounding factors. Besides, CKD subjects with and without SCH had no different metabolic parameters.

The 5 Alpha-reductase type 2 deficiency (5ARD2) is an inherited condition, which clinically presents as variable degrees of under virilization in affected 46,XY individuals. In the diagnostic pathway of 5ARD2, the testosterone/dihydrotestosterone (T/DHT) ratio is broadly employed before molecular analysis of the SRD5A2 gene. However, due to cost-benefit considerations, the DHT test in our country is routinely lacking in clinical settings; therefore, we considered applying the urinary etiocholanolone/androsterone (Et/An) ratio as an alternative test.

We aimed to determine the diagnostic value of the urinary Et/An ratio versus the T/DHT ratio in diagnosing 5ARD2 patients and carriers.

Sixty-six suspected 5ARD2 46,XY disorders of sex development (DSD) individuals and 95 family members were recruited in the study. Their physical manifestations, T/DHT and urinary Et/An ratios, and SRD5A2 genes were analyzed. Using molecular analysis of the SRD5A2 gene as the gold standard, we compared the accuracy of both ratios in diagnosing 5ARD2 patients and carriers with receiver operating characteristic (ROC) curve analysis.

Thirty-seven patients were confirmed molecularly to have 5ARD2, and the rest (n = 29) were assessed as normal controls, while in the carrier group, 53 were molecularly confirmed as carriers and 42 as controls. The AUCs (areas under the curve) of the T/DHT and urinary Et/An ratios were 57.7% (95% CI 43.0 - 72.4%, P > 0.05) and 79.7% (95% CI 69.0 - 90.4%, P < 0.001), respectively, in diagnosing 5ARD2 patients and 54.1% (95% CI 42.4 - 65.8%, P > 0.05) and 75.1% (95% CI 65.1 - 85.1%, P < 0.001), respectively, in diagnosing carriers. The cutoff value of the urinary Et/An ratio was set at ≥ 0.95 for detecting 5ARD2 patients and ≥ 0.99 for detecting carriers.

The testosterone/DHT ratio was inaccurate in diagnosing 5ARD2 patients. When molecular analysis for the SRD5A2 gene is lacking, the urinary Et/An ratio may be a useful test to diagnose 5ARD2 patients and carriers.

The art of medicine glorifies when a clinician listens carefully to the patient’s story, gives a thorough examination, performs appropriate investigations, and finally links findings together to reach a definite diagnosis. An interesting case was reported here, highlighting the integration of different symptoms and manifestations with some relevant biochemical investigations to reach a final diagnosis. To the best of our knowledge, fixed flexion deformity, as a complication of subcutaneous calcification, has not been previously reported in a child with Albright hereditary osteodystrophy (AHO).

A 2.5-year-old boy was born at term with a birth weight of 3.5 kg (-0.49 SDS). The child was referred to a general pediatrician with a history of right elbow joint swelling noticed initially at six months of age. He then developed the limitation of right upper arm movement, which slowly progressed afterward. The patient had no history of trauma. At nine months of age, he was diagnosed with hypothyroidism, preceded by cold skin, dry hair, and constipation. At nine years of age, he presented with a fixed flexion deformity of the right elbow, associated with markedly limited joint movement and symmetrical hands with hyperpigmented knuckles of right metacarpal bones. Subcutaneous masses were felt along the right forearm, showing tenderness on palpation. Investigations revealed elevated serum parathyroid hormone and normal calcium, indicating parathyroid hormone resistance. Further genetic testing revealed GNAS mutation. The child was obese throughout his childhood.

This case report describes an obese child with subcutaneous calcification that led to fixed flexion deformity of the elbow, starting at an incredibly early age. Hypothyroidism and pseudohypoparathyroidism raised the suspicion of AHO, which was later confirmed by genetic testing. This is the first case report on fixed flexion deformity in a patient with GNAS mutation (c.719-1G > A Chr20: 57484737) in West Asia.

Von Hippel Lindau (VHL) disease is a hereditary disorder characterized by the development of benign or malignant tumors in the brain, spinal cord, eyes, adrenal medulla, kidney, pancreas, and many other organs. Advances in molecular diagnosis have led to the identification of the affected members of families at earlier stages. We present the clinical, laboratory, and genetic characteristics of five generations of a large Iranian kindred with VHL.

The proband, a 52-year-old Iranian man, was recognized with VHL. All family members underwent clinical, laboratory, imaging, and genetic evaluation. Medical files and histopathology reports of patients who had been operated on before were also reviewed. Diagnosis of the disease was based on clinical findings, positive family history of VHL, and development of a central nervous system or retinal hemangioblastoma or pheochromocytoma.

Based on diagnostic criteria, our initial evaluations revealed that 10 members of the family had already been affected by the disease. Among them, nine had pheochromocytoma, and one had retinal hemangioblastoma. There was no case of kidney tumors among the kindred.

Study results show the high penetrance of the disease and focus on the large burden imposed by the disease on the health and quality of life of patients afflicted with the disease, emphasizing the importance of surveillance from early childhood for detection and management of the disease as early as possible.

The important role of physical activity in the prevention and management of diabetes necessitates a review of current research to shed light on gaps in national diabetes guidelines.

This scoping review was part of the Iran Diabetes Research Roadmap (IDRR) study. A systematic search was used based on the Arksey and O’Malley method consisting of six steps. The descriptive analysis was done with SPSS software. Additionally, VOS veiwer software was used to draw the knowledge map of the included studies.

There were 169 articles included from the beginning of 2015 to the end of 2019 in Iran. Aerobic and resistance exercises were types of physical activity with more number of articles. Most of the included clinical studies were randomized clinical trials in design and had a level of evidence two. Also, there was more interest in outcomes such as glycemic control and insulin sensitivity, metabolic syndrome, metabolism, and cardiovascular health. The network of co-authorship was drawn, and "controlled study", "male", and "rat" were the most frequent keywords.

The number of Iranian diabetes researchers on physical activity has been increasing, and the majority of clinical studies had a high level of evidence. With maintaining previous interests and investigations, there should be more emphasis on research in elderly and children age groups as evidence gap in Iran. Also, longitudinal cohort studies should be highlighted, and Iranian researchers should be encouraged to participate in new topics of research worldwide.

Diabetic ketoacidosis (DKA) is one of the severe acute complications of diabetes. It has long been considered a key clinical characteristic of type 1 diabetes mellitus (T1DM) with severe and irreversible deficient insulin levels. Ketosis-prone diabetes (KPD) has pathophysiology close to T2DM but shows signs and symptoms associated with T1DM. In general, patients with ketosisprone diabetes display elevated glucose and ketone levels; also, a higher hemoglobin A1C than conventional T2DM.

The current research aimed to elucidate the clinical presentation and outline a management plan for KPD in the Indian population.

The present case series is a descriptive, prospective, and observational case series on six unprovoked cases of KPD. They were managed using the standard protocol of DKA management.

The recruited cases followed a set pattern of very high insulin requirement at diagnosis. On follow-up, the insulin requirement progressively declined, and all of the cases were able to stop insulin therapy after a mean period of four weeks. None of the cases presented any organ damage at diagnosis. There was no recurrence of DKA during the two-year follow-up. All of the cases had normal liver and renal functions. Autoantibodies were negative in all of the cases.

Ketosis-prone diabetes is the most under-recognized and under-diagnosed among all types of diabetes. Its recognition is of utmost importance as the approach of its treatment varies widely from that of the conventional type of diabetes. Proper follow-up, especially in unprovoked cases of DKA with obese phenotype, could help elucidate this rare entity of KPD where insulin can be stopped and maintain normoglycemia for a substantial period without insulin.

Further studies are needed to extend our knowledge about the association between male infertility and cardiometabolic disorders.

We aimed to assess the association betweenmale infertility and cardiometabolic disturbances using a population-based design.

In total, 1611 participants of the Tehran-Lipid and Glucose-Study (phase III) were categorized into two groups of men with documented male infertility (n = 88) and those with at least one live birth and no history of primary infertility (n = 1523). Logistic regression was applied to explore the association between male infertility and cardiometabolic disturbances, including diabetes mellitus, pre-diabetes, hypertension, metabolic syndrome, dyslipidemia, obesity, central obesity, and chronic kidney disease, following adjustment for age and body mass index (BMI).

The unadjusted model revealed a significant association between infertility and hypertension and CKD (OR = 1.8; 95% CI: 1.2, 2.9, P-value = 0.006 and OR = 1.9; 95% CI: 1.1, 3.6, P-value = 0.033), respectively. However, after adjusting for age and BMI, as potential confounders, this association was not significant. Moreover, there was no association between infertility and other cardiometabolic disturbances, including diabetes and pre-diabetes, metabolic syndrome, dyslipidemia, obesity, and central obesity in both unadjusted and adjusted models.

Our study revealed no association between male infertility and cardiometabolic disturbances. The findings can pave the way for further studies to extend our knowledge in this field. More population-based studies with a large sample size are warranted to confirm these findings.

 Familial non-medullary thyroid cancer (NMTC) are supposed to be more aggressive and require more frequent treatment compared to non-familial thyroid cancer.

 This matched case-control study aimed to compare the response to treatment between the matched case-control groups of familial and sporadic NMTC.

 This is a retrospective study in patients with familial NMTC (at least one other first-degree relative involved) who were treated with surgery, followed by radio-iodine therapy (RIT) without consideration of its familial origin. Response to treatment was compared between familial NMTC and age, sex, and TNM stage-matched non-familial NMTC (control group). Response to treatment was assessed one and two years after RIT, and time to excellent response was identified.

 Out of 2,944 NMTC patients, 81 (2.75%) patients had familial NMTC. We compared 66 patients with familial NMTC and 66 sporadic NMTC patients. There was no significant difference in first thyroglobulin, initial and accumulative iodine dose, and additional treatments (additional surgery and radiotherapy) between patients and controls. Although no significant difference was noted in one and two years’ responses to treatment between the case and control groups, familial NMTC patients required more time to achieve excellent response (26.7 ± 24.9 versus 15.9 ± 9.0 months, P = 0.01). No significant difference was noted between familial NMTC patients with two or more than two involved relatives.

 Our study showed that if patients with familial NMTCs were treated in the same way as non-familial patients, the time to excellent response would be significantly longer, even when they have only one other involved relative.