A Study of Serum Adiponectin Levels in Patients with Polycystic Ovarian Syndrome and its Correlation with Various Cardiometabolic Risk Markers.

Background: Polycystic ovarian syndrome (PCOS) is the most common metabolic disorder in the reproductive age group, the pathogenesis of which is constantly evolving with the discovery of novel molecules and the lookout for potential therapeutic targets. Aims: The aim of the present study was to estimate the circulating levels of serum adiponectin in patients with PCOS compared to controls and to find its correlation with markers of cardiovascular risk, with special emphasis on circulating levels of oxidised low-density lipoprotein (oxLDL). Settings and Design: In this cross-sectional observational study recently diagnosed, PCOS subjects were compared with age- and body mass index (BMI)-matched controls. Materials and Methods: All the included subjects underwent detailed clinical, biochemical and hormonal evaluation, including lipid profile, 75 g oral glucose tolerance test, fasting serum insulin, fasting serum adiponectin, oxLDL, total testosterone and anti-Mullerian hormone. Statistical Analysis Used: Appropriate statistical methods were performed using SPSS (version 21) and Microsoft Excel (2019). Results: A total of 56 PCOS cases and 32 controls were included in the study. Mean values of serum adiponectin (µg/mL) in our study were found to be significantly lower in PCOS cases (11.53 ± 4.74) versus controls (14.73 ± 5.61) irrespective of BMI. Mean values of serum oxLDL (µg/dL) were found to be higher in PCOS cases (157.96 ± 53.89) versus controls (117.52 ± 45.44), with a significant negative correlation between adiponectin and oxLDL in cases. No difference in levels of adiponectin was found between the different PCOS phenotypes. Conclusion: Hypoadiponectinaemia was found to be associated with PCOS irrespective of obesity in PCOS subjects. Serum oxLDL can complement adiponectin as early predictor of CV risk in PCOS.

A Case of Mixed Gonadal Dysgensis: A Diagnostic Challenge.

A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth. There was no history of failure to thrive or salt-losing crisis. On examination, the child had normal height and weight with normal blood pressure and no dysmorphism or Turners stigmata with external genitalia Prader Score 2. Ultrasound of the pelvis revealed hypoplastic uterus with no gonads visualized. There was no evidence of hypocortisolemia (8 am cortisol 14.08 mcg/dl) or elevated level of 17-OH-progesterone (1.1 ng/mL). Pooled follicle-stimulating hormone and luteinizing hormone levels were 2.66 mIU/ml and 0.1 mIU/ml, respectively, thyroid-stimulating hormone: 2.36 mIU/L, T4: 134.5 nmol/L, total testosterone: 2.5 ng/dl. Posthuman chorionic gonadotropin stimulation showed total testosterone levels 267 ng/dL, dihydrotestosterone: 155 pg/mL, androstenedione: 0.3 ng/mL indicating functioning testicular tissue without any evidence of 17-beta hydroxylase or 5-alpha reductase deficiency. Karyotyping revealed 45, XO genotype on two separate occasions. In view of the discrepancy between karyotype finding and ultrasound reports with the clinical and hormonal picture, fluorescence in situ hybridization cytogenetic study was carried out and showed MONOSOMY X (90% cells)/SEX ANEUPLOIDY XYY (10% cells). Laparoscopic examination showed gonad in the right ovarian fossa and left streak gonad with bilateral fallopian tubes and hypoplastic uterus. Genitoscopy showed normal vagina and cervix. Cystoscopy showed normal urethra and urinary bladder. Biopsy was taken from both gonads. A thorough histopathological examination of this specimen showed the structure of seminiferous tubules with Leydig cells in the right gonad with streak ovary on the left side. The child underwent bilateral gonadectomy and rehabilitated her to lead a life as a girl.

Sertoli Cell Function in Young Males with Metabolic Syndrome.

CONTEXT: The last few decades have witnessed an alarming increase in the prevalence of the metabolic syndrome (MetS) worldwide including India. Apart from the known risks of MetS in terms of cardiovascular risk and mortality, there is increasing evidence that it also leads to alteration in testicular function and fertility. AIMS: To assess the presence of hypogonadism and Sertoli cell dysfunction in young adult males with MetS and correlate these parameters with different components of the MetS. SETTINGS AND DESIGN: Cross-sectional study conducted in the Department of Endocrinology, Gauhati Medical College, a tertiary care hospital in North East India. SUBJECTS AND METHODS: Young adult males with MetS aged 20-40 years and age-matched healthy males who served as controls were examined clinically. Laboratory investigations done in the fasting state included blood glucose, lipid profile, serum follicle-stimulating hormone (FSH), inhibin B and total testosterone (Te). Semen was collected after 3 days abstinence and analysis done. STATISTICAL ANALYSIS: Baseline parameters were presented as median and 'Kruskal-Wallis' test was used to compare them. Pearson test and multiple regression analysis were used to assess the correlation and association between variables. RESULTS: Fifty cases with MetS and 30 controls were included in the study. Subjects with MetS had significantly lower levels of total Te, FSH and inhibin B. They also had significantly lower semen volume, sperm count and total as well as progressive motility. There was a significant negative correlation of waist circumference and positive correlation of inhibin B with total sperm count. A significant negative association of serum triglycerides with semen volume was also found. CONCLUSION: MetS is a state of hypogonadotropic hypogonadism as reflected by low total Te, FSH and inhibin B levels with semen abnormalities reflecting Sertoli cell dysfunction.

Assessment of Glomerular and Tubular Function in the Evaluation of Diabetic Nephropathy: A Cross-sectional Study.

BACKGROUND: Diabetic nephropathy (DN) occurs in 20%-40% of patients with diabetes, and it is characterized by proteinuria and progressive loss of renal functions ultimately leading to end-stage renal disease. Classically, albuminuria is regarded as a consequence of diabetes-induced glomerular damage. It is now being appreciated that the renal tubulointerstitium also plays a role in the development of DN.[1] Urinary cystatin C (UCC) is an emerging marker of DN. It is totally catabolized by proximal tubular cells and is not normally present in the urine. However, in the presence of tubulopathy, it is excreted in urine, and serum levels also are elevated due to lack of catabolism. MATERIALS AND METHODS: The present study was conducted to evaluate the presence of glomerulopathy and tubulopathy in patients with type 2 diabetes mellitus (T2DM) and to correlate them with established risk factors for nephropathy. We aimed at evaluating the level of UCC as a marker of tubulointerstitial damage in patients with T2DM in relation to the level of albuminuria and other parameters. Seventy-two patients with T2DM (mean age, 47.44 ± 10.40 years) and 45 healthy age- and sex-matched subjects were evaluated for UCC, serum creatinine, and urinary albumin-creatinine ratio (UACR) along with other parameters. RESULTS: Of the 72 patients included in the study, microalbuminuria was found in 26% and macroalbuminuria in 10% of cases. UCC was significantly higher in micro- and macro-albuminuric groups in comparison with normoalbuminuric patients and correlated positively with UACR. Among the 46 patients with normoalbuminuria, 11 had elevated UCC levels indicating early tubular dysfunction. CONCLUSIONS: This finding may support the hypothesis of a "tubular phase" of diabetic kidney disease preceding overt DN, and hence, the use of UCC measurement for early evaluation of renal involvement.

Cardiovascular Risk Factors in Children and Adolescents with Subclinical Hypothyroidism.

BACKGROUND: Subclinical hypothyroidism (SCH) is a commonly encountered entity in day-to-day clinical practice and has been associated with adverse cardiovascular risk profile in adults and children. Data on children and adolescents with SCH, from India, are limited. MATERIALS AND METHODS: This study was a cross-sectional case-control study, conducted at a tertiary care center in Northeast India. Twenty-seven children and adolescents aged 11 ± 2.4 years with SCH and thyroid-stimulating hormone >7.5 mIU/L were included in the study along with 20 age-, gender-, and height-matched controls. Multiple clinical, biochemical, and radiological cardiovascular risk factors were assessed and compared between the two groups. RESULTS: Body mass index (BMI) (P = 0.048), waist circumference (P = 0.008), waist to height ratio (P = 0.007), low-density lipoprotein cholesterol (P = 0.04), triglycerides (TGs) (P = 0.038), TGs to high-density lipoprotein (HDL) cholesterol ratio (P = 0.005), non-HDL cholesterol (P = 0.019), fasting insulin (P = 0.006), and homeostasis model assessment of insulin resistance (P = 0.007) were found to be significantly higher while free T4 (P = 0.002) and HDL cholesterol (P = 0.019) were found to be significantly lower in SCH subjects compared to controls. On multiple regression analysis, BMI was found to have significant association with multiple cardiovascular risk factors. CONCLUSION: Children and adolescents with SCH were found to have adverse cardiovascular risk profile. Long-term follow-up studies are required to assess the clinical significance of these findings and requirement for therapy.

Delayed Presentation of Turner Syndrome: Challenge to Optimal Management.

BACKGROUND: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. AIM: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. MATERIAL AND METHODS: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. RESULTS: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14-42 years). Primary amenorrhea was the most common reason for seeking medical attention (76.4%) followed by short stature and diabetes mellitus (11.8% each). The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X) was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X)(q10) in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. CONCLUSION: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

Agenesis of dorsal pancreas associated with periampullary pancreaticobiliary type adenocarcinoma.

CONTEXT: Agenesis of the dorsal pancreas is one of the rare congenital malformations of pancreas. The association of agenesis of the dorsal pancreas with pancreatic tumors is extremely rare and only around 9 cases being reported till date. CASE REPORT: We report a case of a fifty one year old woman with an agenesis of the dorsal pancreas with periampullary pancreaticobiliary adenocarcinoma. She presented with features of obstructive jaundice without pain abdomen or fever. Laboratory data showed conjugated hyperbilirubinemia, raised alkaline phosphatase and impaired glucose tolerance. Ultrasound abdomen showed periampullary mass. MRI abdomen and MRCP demonstrated dorsal agenesis of the pancreas, dilated intra and extra hepatic bile ducts with narrowing of distal CBD with periampullary mass. Pancreatic tumor was considered as preoperative diagnosis, and pancreaticoduodenectomy was performed. Histopathology confirmed pancreaticobiliary type of adenocarcinoma. CONCLUSION: A rare case of dorsal agenesis of the pancreas with periampullary pancreaticobiliary type of adenocarcinoma was presented. Therefore this case therefore merits reference as a rare clinical presentation.

Gonadal function in young adult males with metabolic syndrome.

AIMS: Aim of the study was to assess the gonadal function of young adult males with metabolic syndrome and to compare them with healthy age matched controls. METHODS: Forty young male subjects of age group 20-40 years who fulfilled the IDF criteria (2005) for diagnosis of metabolic syndrome were included in the study. Thorough evaluation of the subjects was done and history of sexual dysfunction if any was noted. Pooled blood samples were collected from each subject in fasting state for total testosterone, SHBG, FSH, LH, prolactin and insulin levels. All hormonal analyses were done by radio immune assay (RIA). Hypogonadism was defined as total testosterone less than 3ng/ml. Eighteen healthy age matched controls were also taken for the study. RESULTS: Twenty percent of subjects with metabolic syndrome had eugonadotropic hypogonadism compared to 5.5% controls. Subjects with metabolic syndrome also had significantly lower SHBG level compared to the controls. CONCLUSION: From this study it has been observed that eugonadotropic hypogonadism with low total testosterone and normal or low normal gonadotropin levels may be a feature of the metabolic syndrome in young adult males. Significant low SHBG levels as compared to controls could be one of the factors responsible for various biochemical alteration seen in these cases. This study highlights the importance of evaluating gonadal function in young adult males with the metabolic syndrome and has therapeutic implications in the management of such subjects with gonadal dysfunction.

Hypomagnesemia in type 2 diabetes mellitus.

INTRODUCTION: Hypomagnesemia is reported in type 2 diabetes; magnesium deficiency may play a role in the development of endothelial dysfunction and altered insulin function. OBJECTIVE: To assess the incidence of hypomagnesemia among noncritically ill patients of Type 2 diabetes mellitus and to evaluate the relation of hypomagnesemia to glycemic control and various long-term complications of diabetes mellitus. MATERIALS AND METHODS: One hundred and fifty, noncritically ill (APACHE score < 10) type 2 diabetes mellitus patients, who were admitted in the Departments of Medicine and Endocrinology, GMCH for uncontrolled hyperglycemia and/or various diabetic complications were studied. Serum magnesium was assessed at admission and rechecked in those found to be deficient. RESULTS: Hypomagnesemia (Se magnesium < 1.6 mg/dl) was documented in 17 (11.33%) patients with a female:male ratio of 9:8. Mean HbA1c was 11.9% in the hypomagnesemic patients compared with 9.8% in controls (P =0.0016). Retinopathy, microalbuminuria, macroalbuminuria, foot ulceration, and neuropathy was present in 64%, 47%, 17.64%, 58.8%, and 82.35%, respectively, of the patients with hypomagnesemia as compared with 45.8% (P =0.118), 38.34% (P =0.704),15.03% (P =0.566), 22.55% (P =0.011) and 82.7% (P =0.976) without hypomagnesemia. Coronary artery disease was less common in the hypomagnesemia group (17.6% vs 39%), but comparable in the subgroup < 50 years (27% vs 25%) (P =0.796). CONCLUSION: Hypomagnesemia in diabetes was associated with poorer glycemic control, retinopathy, nephropathy, and foot ulcers.

Lamellar ichthyosis with genu valgum: unfolding the link.

We describe a case of lamellar ichthyosis with bilateral genu valgum. The association of genu valgum with congenital ichthyosis is rare. Our patient, a 22-year-old girl, had lamellar ichthyosis and was born with a collodion membrane. She developed progressive valgus deformity of the knees of 5 years duration associated with difficulty in walking. On evaluation, she had generalised scaly skin lesions along with bilateral genu valgum and biochemical evidence of vitamin D deficiency. Skin serves as an important site for vitamin D synthesis and thus skeletal deformities secondary to vitamin D deficiency may occur in cases of congenital ichthyosis, causing a diagnostic dilemma due to the unusual association. This case serves as a reminder that clinicians need to be aware of such an association in order to prevent, appropriately diagnose and adequately treat the rare case of congenital ichthyosis with rickets and osteomalacia.

Budd-Chiari syndrome in a patient of diabetic ketoacidosis.

We report a rare case of Budd-Chiari syndrome developing in a patient undergoing treatment for diabetic ketoacidosis. A 27-year-old female presented with newly detected Type 1 diabetes with sepsis in ketoacidosis. During the process of treatment, she developed pain abdomen, ascites, and pedal edema. Investigations revealed an alteration of liver function and imaging characteristics of acute on chronic Budd-Chiari syndrome. All known etiological factors for Budd-Chiari syndrome were negative. Diabetic ketoacidosis, being a severely dehydrated state often associated with sepsis, may precipitate an acute presentation of previously asymptomatic Budd-Chiari syndrome.

Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center.

INTRODUCTION: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns. Episodes of amenorrhea as short as 90 day may have implications for bone and cardiovascular health. AIMS AND OBJECTIVE: To evaluate all patients presenting with primary amenorrhea in the Endocrinology OPD of Gauhati Medical College and Hospital. MATERIALS AND METHODS: A total of 14 patients presenting to the Endocrinology OPD from March 2010 to May 2012 with a history of primary amenorrhea were included in the study. All patients were subjected to a detailed history, a thorough clinical examination, and relevant biochemical, hormonal, and radiological investigations. RESULT: In our study, the average age of presentation was 17.23 ± 4.2 years. Out of the 14 patients presenting with primary amenorrhea, 5 patients (35.71%) were found to have Turner's syndrome, 2 (14.28%) had XX (pure) gonadal dysgenesis, 2 (14.28%) patients had XY gonadal dysgenesis (Swyer syndrome), 2 (14.28%) patients had Müllerian agenesis, 2 (14.28%) patients had hypothalamic amenorrhea, and 1 (7.14%) patient was found to have multiple pituitary hormone deficiency. CONCLUSION: In concordance with other studies, Turner's syndrome, Müllerian agenesis, and gonadal dysgenesis are the commonest causes of primary amenorrhea in our study. However, in contrast to certain Western reports, primary amenorrhea rather than short stature remains the commonest cause for seeking medical evaluation in patients with Turner's syndrome.

Diabetic myonecrosis: An underreported complication of diabetes mellitus.

Diabetic myonecrosis is an underreported complication of long-standing, poorly controlled diabetes mellitus which is usually self-limiting and responds well to conservative management. Patients frequently have microvascular complications, and although short-term prognosis is good, the long-term prognosis is poor. We report four cases of diabetic myonecrosis admitted in a tertiary care hospital.

Drug-induced thyroid disorders.

Disorders of thyroid hormone metabolism are commonly encountered in clinical practice. Apart from conditions affecting the thyroid gland, thyroid hormone homeostasis may be altered by medications used in varied clinical settings. Drugs may interfere at different steps in thyroid hormone synthesis or secretion leading to hypothyroidism or thyrotoxicosis or may cause changes in hormone binding leading to difficulties in the interpretation of thyroid function tests. These difficulties have been largely overcome by the development of improved diagnostic tools including radio-active uptake studies, estimation of thyroid auto-antibodies and highly sensitive hormone assays.