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1.
J Assoc Physicians India ; 67(8): 87-88, 2019 Aug.
Article in English | MEDLINE | ID: mdl-31562730

ABSTRACT

Hirsutism is excess terminal hair that commonly appears in a male pattern in women. It is associated with hyperandrogenemia. Ferriman-Gallwey scoring system is the most popular scoring system for evaluation, treatment and monitoring the response to therapy. Causes include PCOS, Cushing syndrome, glucocorticoid resistance, drugs, more serious conditions like androgen secreting tumour of ovaries or the adrenal gland, hyperthecosis ovarii and luteoma of pregnancy. We present a case of severe PCOS (Hyperthecosis ovarii) which mimics androgen secreting tumour from ovary in a 30- yr- old lady. This case emphasizes on the spectrum of manifestations that PCOS can come with and the importance of trans vaginal ultrasonography in diagnosing ovarian conditions and its superiority over conventional trans abdominal USG or CT scan.


Subject(s)
Polycystic Ovary Syndrome/diagnosis , Adrenal Glands , Adult , Androgens , Female , Hirsutism , Humans , Pregnancy
2.
BMJ Case Rep ; 2016: 10.1136/bcr-2016-214493, 2016 Apr 11.
Article in English | MEDLINE | ID: mdl-27068725

ABSTRACT

Pseudoacromegaly, or acromegaloidism, is characterised by a clinical appearance mimicking acromegaly in the absence of documented hypersomatotropism or past exposure to excess growth hormone. It can develop secondary to a number of congenital and acquired conditions of which severe insulin resistance is an important example. Lipodystrophy syndromes are a group of rare disorders of which autosomal recessive congenital generalised lipodystrophy is the most common type. Patients with this disorder are predisposed to insulin resistance and its associated complications such as diabetes mellitus, hypertriglyceridaemia, fatty liver, polycystic ovaries and acanthosis nigricans. Elevated circulating insulin levels in these patients rarely can give rise to soft tissue and bony overgrowth, with resultant acromegaloidism. We report an adolescent girl presenting with unusual prominence of her hands and feet; a thorough evaluation ultimately revealed a diagnosis of congenital generalised lipodystrophy.


Subject(s)
Acromegaly/congenital , Lipodystrophy, Congenital Generalized/complications , Adolescent , Female , Humans , Insulin Resistance
3.
World J Clin Cases ; 3(12): 1017-20, 2015 Dec 16.
Article in English | MEDLINE | ID: mdl-26677453

ABSTRACT

Neuropathic arthropathy of the shoulder is a rare disorder characterized by joint degeneration, and is associated with loss of sensory innervation. Syringomyelia is a disease in which fluid-containing cavities (syrinxes) form within the spinal cord. Here, we report a case of neuropathic arthropathy of the shoulder secondary to syringomyelia in a 40-year-old woman. X-rays of the left shoulder revealed damage to bone and joint architecture. Blood tests indicated vitamin D deficiency and secondary hyperparathyroidism. Magnetic resonance imaging of the cervical spine showed a large syrinx from the second cervical spine to the second dorsal spine. Although neuropathic arthropathy is uncommon, it should be considered in cases of unexplained pain, discomfort, or limited range of motion of the affected joint. Symptoms related to the affected joint may precede or overshadow neurological deficits. Appropriate radiological examinations and diagnoses are imperative to prevent misdiagnosis or undetected bone and joint disorders.

4.
BMJ Case Rep ; 20142014 Oct 16.
Article in English | MEDLINE | ID: mdl-25323284

ABSTRACT

Case 1: A 43-year-old farmer attended our clinic with increasing fatigability, nausea, loss of appetite, loss of weight, postprandial fullness along with thyroid-stimulating hormone value of 0.4 mIU/L and anaemia without any history of cough, chest pain, haemoptysis, osmotic symptoms, haematemesis or malena. The patient received albendazole and iron preparations before attending our clinic. Case 2: A 51-year-old woman, a known patient with type 2 diabetes for the past 8 years, on gliclazide and metformin (2 g), with unaltered liver function test and renal function test, presented with symptoms similar to case 1 of upper gastrointestinal features along with a history of weight loss (about 6 kg) over the past 3 months. Metformin was withdrawn by her primary care physician but her symptoms persisted. A velvety appearance with pigmentation on the palms of the hands was found in both cases. Endoscopy revealed an irregular mass in the stomach. Subsequently, both patients were diagnosed to have gastric adenocarcinoma.


Subject(s)
Acanthosis Nigricans/etiology , Adenocarcinoma/diagnosis , Stomach Neoplasms/diagnosis , Acanthosis Nigricans/pathology , Adenocarcinoma/complications , Adult , Diabetes Mellitus, Type 2/complications , Fatigue/etiology , Feeding and Eating Disorders/etiology , Female , Hand/pathology , Humans , Male , Middle Aged , Stomach Neoplasms/complications , Weight Loss
5.
Indian J Endocrinol Metab ; 17(Suppl 1): S268-70, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24251183

ABSTRACT

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 µg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers.

6.
Indian J Endocrinol Metab ; 17(Suppl 1): S333-4, 2013 Oct.
Article in English | MEDLINE | ID: mdl-24251205

ABSTRACT

A 42-year-old lady, a known diabetic presented with generalized body ache, severe burning sensation over her lower limbs, loss of weight (approximately 8 kg), loss of appetite, nausea, frequent vomiting, and altered bowel habits without history of fever or pain abdomen. Symmetrical wasting was noted in all limbs with bilateral proximal muscle weakness, particularly of lower limbs. Ankle jerks were absent with symmetrically decreased reflexes. nerve conduction velocity (NCV) revealed symmetrical distal axonal and demyelinating type of sensorimotor polyneuropathy. Hematological and gastrointestinal (GI) malignancy were excluded. Patient responded to antidepressants.

7.
J Assoc Physicians India ; 61(7): 494-5, 2013 Jul.
Article in English | MEDLINE | ID: mdl-24772758

ABSTRACT

Primary sclerosing cholangitis (PSC) is a chronic inflammatory disease of bile ducts..Patients with PSC usually presents with fatigue, jaundice and pruritus. Ultimately it leads to cirrhosis of liver and portal hypertension. But it rarely presents with decompensated liver disease without any previous symptoms. Here we report a case of PSC which presented with features of decompensated liver disease with K-F rings in the eyes.


Subject(s)
Cholangitis, Sclerosing/complications , Liver Cirrhosis/etiology , Adult , Cholangiopancreatography, Magnetic Resonance , Cholangitis, Sclerosing/diagnosis , Eye Diseases/etiology , Humans , Male
8.
Article in English | MEDLINE | ID: mdl-24616763

ABSTRACT

UNLABELLED: Parathyroid cysts are rare (0.8-3.41% of all parathyroid lesions) and usually arise secondary to cystic degeneration of parathyroid adenomas. Intrathyroidal parathyroid cysts are extremely rare with only three cases reported till date. We present a 24-year-old female with clinical and biochemical features of primary hyperparathyroidism (PHPT; Ca(2) (+): 12.1 mg/dl; intact parathyroid hormone (iPTH): 1283 pg/ml) and poor radiotracer uptake with minimal residual uptake in the left thyroid lobe at 2 and 4 h on Tc(99m) sestamibi imaging. Neck ultrasonography (USG) revealed 0.6×1 cm parathyroid posterior left lobe of thyroid along with 22×18 mm simple thyroid cyst. USG-guided fine-needle aspiration (FNA) and needle tip iPTH estimation (FNA-iPTH) from parathyroid lesion was inconclusive (114 pg/ml), necessitating FNA of thyroid cyst, which revealed high iPTH (3480 pg/ml) from the aspirate. The patient underwent a left hemithyroidectomy. A >50% drop in serum iPTH 20 min after left hemithyroidectomy (29.4 pg/ml) along with histopathology suggestive of intrathyroidal cystic parathyroid adenoma (cystic lesion lined by chief cell variant parathyroid cells without any nuclear atypia, capsular or vascular invasion surrounded by normal thyroid follicles) confirmed that the parathyroid cyst was responsible for PHPT. This report highlights the importance of FNA-iPTH in localizing and differentiating a functional parathyroid lesion from nonfunctional tissue in PHPT. LEARNING POINTS: Fine-needle aspiration from suspected parathyroid lesion and needle tip iPTH (FNA-iPTH) estimation from the saline washing has an important role in localizing primary hyperparathyroidism (PHPT).FNA-iPTH estimation may help in differentiating functional from nonfunctional parathyroid lesion responsible for PHPT.iPTH estimation from aspirate of an intrathyroid cyst is helpful in differentiating intrathyroidal parathyroid cyst from thyroid cyst.

9.
J Clin Res Pediatr Endocrinol ; 5(4): 266-9, 2013.
Article in English | MEDLINE | ID: mdl-24379038

ABSTRACT

Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. Radiograms showed generalized osteopenia, widening of the distal ends of the long bones along with splaying, cupping and fraying. Biochemical evaluation revealed low serum calcium (7.8 mg/dL), low phosphorus (1.4 mg/dL), vitamin-D deficiency [25-hydroxy-vitamin-D (25(OH)D): 8.7 ng/mL], and elevated intact parathyroid hormone (PTH, 811 pg/mL). Re-evaluation due to lack of clinical improvement following vitamin-D and calcium supplementation revealed hypercalcemia 11.9 mg/dL, normal 25(OH)D 41 ng/mL, persistence of elevated PTH 632 pg/mL. A 99mTc-sestamibi scan showed increased uptake at the lower pole of the right lobe of the thyroid. A right inferior parathyroidectomy was performed. Histopathology revealed chief cell type parathyroid adenoma. Last evaluated 4 months after surgery, the bone pains and proximal weakness had resolved, with significant improvement in the patient's quality of life. Rickets in the setting of PHPT often masks the classical phenotype of PHPT. In a child with rickets, lack of improvement following vitamin-D supplementation, hypercalcemia at presentation or following vitamin-D supplementation are warning signs which necessitate further evaluation to rule out PHPT.


Subject(s)
Hyperparathyroidism, Primary/diagnosis , Rickets/diagnosis , Child , Diagnosis, Differential , Female , Humans , Hyperparathyroidism, Primary/therapy , Parathyroidectomy , Quality of Life , Rickets/therapy , Treatment Outcome
10.
J Indian Med Assoc ; 109(10): 737-8, 2011 Oct.
Article in English | MEDLINE | ID: mdl-22482321

ABSTRACT

Leptospirosis, a common zoonotic disease, may present with variable clinical manifestations in between two extremes. Possibility must be excluded in any febrile patient with hepatorenal derangement. There are different reports regarding prevalence pattern, presentations and case fatality rate from different parts of the country. The purpose of this study was to find out the mode of presentation, biochemical profile and complications of leptospirosis cases in an apical level and make a comparison of same with other parts of India. Fifty-one consecutive cases of leptospirosis were selected for this study. Thorough clinical examination was done. ELISA test was done in the second week of illness. Haemogram, liver and renal function tests, coagulation profile, creatine phosphokinase (CPK), chest xray, ECG were done in all patients. Presenting features were fever (100%), myalgia (78.4%), headache (41.2%), jaundice (17.6%), oliguria (29.4%), respiratory distress (25.5%), bleeding manifestations (9.8%), altered sensorium (21.6%). Icterus was found in 74.5% of patients, hepatosplenomegaly in 72.5%, tachypnoea in 52.9%, bleeding manifestations in 35.3%, encephalopathy in 21.6%, hypotension in 15.7% and meningeal signs in 5.9% cases. Case fatality rate was 7.8%. From the study, it becomes evident that though severe leptospirosis has declined, mild leptospirosis has Increased. The reasons for decline of severe leptospirosis may be greater awareness, availability of better diagnostic tool along with widespread use of antibiotics. So, high index of suspicion may eventually reduce complications. It would be wise to start appropriate antibiotics empirically in suspected cases of leptospirosis.


Subject(s)
Leptospirosis/complications , Leptospirosis/diagnosis , Adolescent , Adult , Cohort Studies , Female , Humans , India , Leptospirosis/therapy , Male , Middle Aged , Young Adult
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