Drug-Induced Atypical Lipodystrophy.

We describe a case of an Asian-Indian female patient who presented to us with abnormal fat accumulations in the torso and upper arms following indiscriminate use of corticosteroid and anabolic steroids for about 7 years. Despite prolonged steroid use, the patient did not display cushingoid phenotype or metabolic decompensation. Bone density, echocardiography, and ultrasonogram of the liver were also normal with no evidence of excess pericardial fat, hepatic steatosis, or peliosis hepatis. Concurrent use of anabolic androgen is thought to be protective against the ill effects of steroids, especially on the muscle and bone. This phenomenon has been observed in children and adolescents with Cushing syndrome where the adrenal androgen excess and increased physical activity have shown to reasonably reduce protein catabolism and help in preserving muscle and bone mass. The patient was withdrawn from the drugs and was put on replacement hydrocortisone that was gradually tapered over the next few weeks and planned for surgical correction. This case highlights the fact that medical providers should be aware that a combination of anabolic steroids and glucocorticoids are still used for weight-building purposes, and these patients may present with atypical signs/symptoms as a result of this combination of drugs.

Effect of various exercise protocols on neuropathic pain in individuals with type 2 diabetes with peripheral neuropathy: A systematic review and meta-analysis.

BACKGROUND: Diabetic neuropathy is considered as the most common and alarming microvascular complication of diabetes worldwide. Despite the recent major advances, there remains a dearth in literature on effective treatment options that appropriately target the natural history of painful diabetic neuropathy. AIMS: To review various exercise programs for neuropathic pain in type 2 diabetes individuals with diabetic peripheral neuropathy. METHODS: An extensive literature search was performed in Scopus, Web of Science, PubMed, Science direct and ProQuest. The inclusion criteria were exercise program for neuropathic pain in type 2 diabetes individuals. Animal studies, chemotherapy, electrotherapy, yoga, behavioural and psychological approaches, and other medical interventions were excluded. A systematic strategy to conduct a review was planned, to search, screen articles and extract data by two reviewers independently. RESULTS: Nine out of total 5342 screened articles were identified as relevant for the comprehensive review. The studies included exercise protocols for neuropathic pain in people with type 2 diabetes mellitus. Overall, studies were of low to moderate quality evidence. The findings of this review suggested incorporating exercise program for painful diabetic neuropathy. Exercise intervention is effective in reducing the Michigan neuropathy score (Standardized Mean Difference -2.92, 95% Confidence Interval -4.49 to -1.24; participants = 114; studies = 3; I2 = 88%) Conclusion: A structured exercise prescription need to be designed exclusively for neuropathic pain in population with type 2 diabetes to improve quality of life. However, there is a further need to explore exercise training to strengthen evidence using large clinical trials.

Erdheim Chester Disease - Unusual Presentation with Isolated Skeletal Lytic Lesions.

Introduction: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) of unknown origin that was first described in 1930. Since then, almost 600 cases have been reported worldwide. Even though this disease primarily affects the bone, it has a varied clinical spectrum of presentation ranging from asymptomatic bone lesions to multisystem involvement. Owing to its protean manifestations ECD is often misdiagnosed or diagnosed late. Case Report: We present a 48-year-old female with a long long-standing history of recurrent bone lesion of the tibia and multiple trivial trauma fractures of long bones. Recently, she also developed a persistent headache and painful swelling of the right shoulder and left hip joint. Radiographs revealed multiple lytic and lytic sclerotic lesions. With the probable diagnosis of LCH, she underwent biopsy which revealed features characteristic of ECD. Conclusion: This case highlights the fact that histopathological confirmation is the key to distinguish various types of histiocytic neoplasms. Overlapping clinical and radiological features with atypical manifestations can occur in both LCH and ECD and does not rule out either of them.

Atypical presentation of autoimmune polyglandular syndrome type 1 in the fifth decade.

A 45-year-old woman presented to us with a short-term history of nausea, vomiting and giddiness. On arrival at our hospital, examination revealed postural hypotension. Fluid resuscitation with intravenous normal saline was commenced. She also had chronic mucocutaneous candidiasis and nail changes suggestive of ectodermal dystrophy. Detailed history taking revealed that she had never attained menarche. Serum biochemistries showed hyponatraemia, hyperkalaemia, and hypocalcaemia (sodium, 127 mEq/L; potassium, 6 mEq/L; and albumin-corrected calcium, 6 mg/dL). Adrenocorticotropic hormone-stimulated cortisol (16.7 mcg/dL) was suboptimal favouring adrenal insufficiency. She was started on hydrocortisone and fludrocortisone supplementation. Additionally, the parathyroid hormone was inappropriately low (3.8 pg/mL) confirming hypoparathyroidism. Oral calcium and active vitamin D supplementation were added. With the above clinical and biochemical picture, namely, clustering of primary amenorrhoea, adrenal insufficiency and hypoparathyroidism, the diagnosis pointed towards autoimmune polyglandular syndrome. Genetic workup revealed a deletion in exon 8 of the autoimmune regulator gene confirming the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy/autoimmune polyglandular syndrome type 1 .

Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency.

Objectives Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, that could rarely be due to 17 α-hydroxylase deficiency (17αOHD) and/or 17,20 lyase deficiency. Mutation of CYP17A1 gene causes deficiency of glucocorticoids and androgens but excess of mineralocorticoids. Lack of genital ambiguity in most children causes a delay in diagnosis even until puberty. Classical presentation with hypertension and hypokalemia is often not encountered. We intended to study the clinical, biochemical and genetic characteristics of children diagnosed with CAH due to 17αOHD. Methods Three children who were diagnosed with CAH due to 17αOHD in our institute and on follow up were included in this retrospective study. Clinical, biochemical and genetic characteristics of these children were retrieved and studied from electronic medical records. Results Two children were genetic females and one was genetic male, but all three were raised as females. All had hypertension at diagnosis except one but none had hypokalemia. All of them had mutation in the CYP17A1 gene. The two females responded well to oestrogen and progesterone and had adequate estrogenization clinically. Conclusions Even though CAH due to 17αOHD is quite rare, it should be considered while evaluating young individuals with hypogonadism, hypertension with or without hypokalemia. Lack of genital ambiguity and absence of classical signs at presentation does not rule out this not so uncommon condition and warrants follow up.

Hypothalamic-Pituitary-Adrenal Axis Recovery Following the 1-mg Overnight Dexamethasone Suppression Test in Healthy Volunteers.

BACKGROUND: The recovery of hypothalamic-pituitary-adrenal (HPA) axis suppression following pharmacological doses of various steroids has been studied previously. However, no study has been conducted using the more commonly used 1-mg dexamethasone in the overnight dexamethasone suppression test (ODST). Hence, we aimed at evaluating HPA axis recovery after the 1-mg ODST. OBJECTIVES: This study aimed at investigating the pattern and time of recovery of the HPA axis following the 1-mg ODST in healthy subjects. METHODS: Ten healthy volunteers aged 18 - 40 years, BMI < 30 kg/m2, with neither exposure to steroids nor interfering drugs were included. The 1-mg ODST was performed, and the adrenocorticotropic hormone (ACTH) and cortisol samples were withdrawn at regular intervals. The serum cortisol of < 1.8 µg/dL was considered as HPA axis suppression, whereas the cortisol value equal to or more than baseline was deemed as recovery. RESULTS: Cortisol and ACTH levels were suppressed in all subjects 9 hours following the 1-mg ODST. Although ACTH showed an early increase after 8 hours, the upsurge was noticed following 24 hours (mean ± SD, 34.42 ± 18 pg/mL). Later, cortisol accompanied ACTH, and both reached their baseline after 72 hours (mean ± SD, ACTH, 37.48 ± 12.44 pg/mL; cortisol, 8.45 ± 3.32 µg/dL). A small dip in ACTH and cortisol (mean ACTH, 23.84 pg/mL; mean cortisol, 2.3 µg/dL) was observed after 24 - 36 hours indicating the return of the diurnal rhythm before complete recovery. CONCLUSIONS: The complete recovery of the HPA axis occurs only 72 hours following the 1-mg ODST. ACTH begins to recover as early as 8 hours after the maximal suppression and diurnal rhythm of ACTH and cortisol resume 24 to 36 hours later.

The Impact of GE Lunar vs ICMR Database in Diagnosis of Osteoporosis among South Indian Subjects.

OBJECTIVE: To study the effect of choosing ICMR reference values on the classification of bone mineral density in Indian patients. DESIGN: Retrospective analysis of Dual Energy X-ray absorptiometry (DEXA) and clinical data. PATIENTS: Totally, 316 patients aged more than 65 years attending a tertiary care hospital in South India who underwent DEXA scan were included in the study. MEASUREMENTS: DEXA scan at femoral neck and lumbar spine. RESULTS: A total of 316 patients were studied. The mean age was 61.98 ± 7.66 years. There were 46.84% females and 53.16% males. The average BMI was 26.37 ± 4.51. Of these patients, 46 had history of hip fracture (14.55%). The adoption of the ICMR normative data resulted in a significant increase in T scores in both the hip (+0.51, P < 0.05) and the spine (+1.64, P < 0.01). The adoption of ICMR normative values, resulted in reduction of osteoporosis prevalence from 26.58% to 5.06%. CONCLUSIONS: There is a clinically significant reduction in diagnosis of osteoporosis with the adoption of ICMR reference standard. Clinicians should be recommended to use raw BMD values in gm/cm2 in FRAX calculation and avoid the use of T scores, to avoid overestimation of fracture risk. If our results are replicated, the implications are enormous - Osteoporosis is currently being over diagnosed.

Sertoli-Leydig cell tumour in a patient with non-classic congenital adrenal hyperplasia: an uncommon duo.

Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.

FRAX First - Pragmatic Approach in Resource Poor Settings.

BACKGROUND: Fracture Risk Assessment Tool (FRAX) is a fracture prediction tool that uses clinical risk factors with or without bone mineral density (BMD). BMD is difficult to obtain in resource-limited setting. Hence, we aimed to compare fracture risk prediction by FRAX without BMD (FRAX) and FRAX with BMD (FRAX/BMD). OBJECTIVE: We intended to determine if FRAX and FRAX/BMD would produce identical predictions for 10-year probability of hip fracture and major osteoporotic fracture (MOF). We also desired to study the risk factors that could help to identify the similarity of risk prediction. MATERIALS AND METHODS: A retrospective review of patients who underwent BMD measurement and FRAX assessment was conducted. Men and women >50 years of age with osteopenia and osteoporosis according to the World Health Organization (WHO) definition at one or more sites were included. FRAX prediction scores were calculated with and without BMD using the FRAX India tool. RESULTS: Of 239 subjects, 207 (86.61%) had identical fracture risk predictions with or without BMD in FRAX estimation. Mean age was lower (P = 0.009), whereas body mass index (BMI), hip BMD, spine BMD, and history of previous fracture were higher (P = 0.005, P < 0.001, P < 0.001, and P = 0.02, respectively) in the identical prediction group. CONCLUSION: In our study, FRAX provided fracture risk prediction alike FRAX/BMD in most of the cases. FRAX is a good predictor of fractures especially in younger patients with higher BMI. Therefore, we conclude that FRAX is an effective tool to predict osteoporotic fracture risk and would be an inexpensive alternative when access to dual-energy X-ray absorptiometry (DXA) is limited.