Procalcitonin as a biomarker of bacterial infection in critically ill patients admitted with suspected Sepsis in Intensive Care Unit of a tertiary care hospital.

OBJECTIVE: To compare the diagnostic accuracy of procalcitonin (PCT), C- reactive protein (CRP), total leukocyte count (TLC) and lactate in critically ill patients admitted with suspicion of sepsis. METHODS: It was a cross sectional study conducted at the department of Chemical Pathology and Endocrinology AFIP, Rawalpindi, in collaboration with Medical and surgical intensive care units (ICU) of CMH Rawalpindi from January 2019 to December 2019. A total of 126 patients of both genders with age above 18 years and fulfilling the inclusion criteria of systemic inflammatory response syndrome (SIRS) were inducted in the study. RESULTS: Out of 126 patients 82 (65%) patients have positive blood culture results. Male predominance was noted in patients with positive blood culture. Out of 82 patients with positive blood culture results 69(84%) patients have positive PCT results as well whereas 13(15%) patients with positive blood culture results have negative PCT values. 57(69%) patients had Gram negative bacterial infection and 25(30%) patients had Gram positive bacterial infection. Significant difference was noted between the medians of PCT in blood culture positive and blood culture negative group (p value< 0.05) whereas no significant difference was found between medians of CRP, TLC and lactate between blood culture positive and blood culture negative patients (p value > 0.05). ROC curve analysis of PCT, CRP and TLC were done, keeping blood culture as reference standard, PCT showed largest area under the curve (AUC) and clearly outperformed TLC and CRP. PCT showed AUC of 0.781 as compared to CRP and TLC, which was 0.568 and 0.617 respectively. PCT showed sensitivity of 93.9%, specificity of 47.7%, positive predictive value (PPV) of 77% and negative predictive value (NPV) of 80.8%. CONCLUSION: Higher NPV makes it a reliable marker for screening out sepsis in suspected cases.

Growth Hormone and ACTH Deficiency in a Diabetic Adult.

Adult growth hormone deficiency (AGHD) syndrome has a constellation of features, like impaired cognitive function, altered body composition, poor quality of life and various metabolic changes. Most of its features resemble signs of aging as growth hormone (GH) secretion decreases with age. Hypothalamic-pituitary-adrenal (HPA) axis should be thoroughly investigated in this disease as patients with AGHD are at risk of life-threatening consequences due to partial or complete ACTH deficiency, especially in stressful conditions. GH deficiency has also been related to diabetes or glucose intolerance. It is relatively underdiagnosed problem in adults and requires a thorough workup including dynamic function tests like insulin tolerance test (ITT), which has been termed as the gold standard for the diagnosis of patients with ACTH deficiency.

A Child with Ambiguous Genitalia: An Atypical Presentation.

Lipoid congenital adrenal hyperplasia (LCAH) (OMIM No. 201710) is the most severe type of congenital adrenal hyperplasia (CAH). Its clinical presentation includes lethal disturbance of adrenal and gonadal steroid synthesis due to impairment in the conversion of cholesterol to pregnenolone. Infants with this disorder experience salt loss, and glucocorticoid and mineralocorticoid deficiencies. Replacement therapy has enabled long-term survival. Classic LCAH is relatively common in Japan and Korea but extremely rare in Caucasian populations. An XY male 5-year-old child presented at Endocrine Clinic of Armed Forces Institute of Pathology with ambiguous genitalia and hyperpigmentation. He had family history of CAH. His laboratory investigations revealed normal serum cortisol and 17 Hydroxy (17 OH) progesterone levels with high plasma ACTH and renin levels. He had low aldosterone with inadequate response with hCG stimulation test. This is the first case of non-classic LCAH reported in the Pakistani population. Steroidogenic acute regulatory protein (StAR) gene mutations result in LCAH and the condition should be considered in the differential diagnosis of an XY child with primary adrenal insufficiency.

Acrophobia in a Young Girl with Parathyroid Hormone Resistance (Pseudohypoparathyroidism).

Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.