Phenotypic spectrum and diagnostic challenges in non-21-alpha-hydroxylase deficiency congenital adrenal hyperplasia: a case series from a tertiary care center.

The aim of the present study was 1) to describe the phenotypic spectrum of non-21-alfa-hydroxylase deficiency (non-21-OHD) congenital adrenal hyperplasia (CAH) encountered in a tertiary care endocrine center; 2) to identify the key biochemical, hormonal, and genetic markers that aid in differentiating non-21-OHD CAH subtypes; 3) to highlight the diagnostic challenges faced in distinguishing non-21-OHD CAH from classic 21OHD CAH and other adrenal disorders; and 4) to discuss the clinical implications and management challenges associated with non-21-OHD CAH. A retrospective analysis identified 13 cases of non-21-OHD CAH out of 87 CAH patients between 2008 to 2022. Clinical, biochemical, imaging and genetic data were analyzed.

Panhypopituitarism presenting as sick sinus syndrome: A case series.

The objective of this study is to report the cases of three patients who presented with sick sinus syndrome associated with secondary hypothyroidism, requiring permanent pacemaker insertion and hormone replacement therapy. Three patients were diagnosed with sick sinus syndrome and permanent pacemaker insertion was planned. All three were in their sixth and seventh decades, with clear features of long-standing neglected panhypopituitarism.

Central congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.

TSHB gene mutation results in isolated central congenital hypothyroidism (iCCH). Often diagnosed late, mild neurocognitive impairment is common despite thyroxine initiation. We discuss a female term neonatal presenting with prolonged unconjugated hyperbilirubinaemia.

SGLT2 Inhibitors and Finerenone: A friendly Duo in the Treatment of Diabetic Kidney Disease?

For decades, achieving glycemic control, target blood pressure, and renin-angiotensin-aldosterone system (RAAS) blockade remained to be the therapeutic interventions for retarding diabetic kidney disease (DKD) progression. The management of DKD showed major transformation when SGLT2 inhibitors were recommended to reduce the risk of progressive deterioration in estimated glomerular filtration rate (eGFR), end-stage renal disease (ESRD), and renal death following results of CREDENCE and DAPA-CKD trials. Despite currently available therapeutic approaches, the risk of cardiac death, progression to ESRD, and requirement of renal replacement therapy remains high.

Effect of pain neuroscience education (PNE) in people with different mechanisms of chronic pain: A systematic review and meta-analysis.

Background: Chronic pain poses a multifaceted and prevalent challenge that significantly affects an individual's quality of life. Sensory mechanisms, behavioural components (kinesiophobia and catastrophising), and social factors can influence pain perception in both younger and older populations. Moreover, the mechanisms underlying these altered pain phenotypes require further investigation in order to plan appropriate treatment.

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.

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.

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.

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.

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.

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.

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.

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.

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).