Differences in Primary Hyperparathyroidism Between Pre- and Postmenopausal Women in India.

OBJECTIVE: Primary hyperparathyroidism (PHPT) is a common endocrine disorder in women which becomes more prevalent after menopause. In this study, we compared the demographic, clinical, and biochemical variables between premenopausal (pre-M) and postmenopausal (post-M) women with PHPT. METHODS: A retrospective analysis (from 2005 to 2019) of enrolled women PHPT patients from an online Indian PHPT registry. RESULTS: Of the women with PHPT, 232 and 122 were pre-M and post-M, respectively. The number of post-M PHPT cases registered had a 3.3-fold increase in 2015-2019 from 2005-2009 compared with only a 2.5-fold increase in pre-M cases in the same duration. The majority were symptomatic (90%), although pre-M had a higher proportion of symptomatic than post-M (92% vs 85%; P = .04). Pre-M women showed more prevalence of osteitis fibrosa cystica than post-M women (28% vs 13%; P = .03), although hypertension and gallstone disease were seen more frequently in post-M PHPT women. Pre-M women had a significantly higher median PTH (403 vs 246 pg/mL; P = .02) and median alkaline phosphatase (202 vs 145 pg/mL; P = .02) than post-M women, and vitamin D deficiency was more common in pre-M women (58% vs 45%; P = .03). Gland localization, tumor weight, and disease cure rates did not differ according to menopausal status. CONCLUSION: PHPT was more prevalent in pre-M women, although the number of post-M cases had significantly increased in the last 10 years. Pre-M women had generally more severe clinical and biochemical variables than post-M PHPT women.

"Spectrum of 46 XY Disorders of Sex Development": A Hospital-based Cross-sectional Study.

BACKGROUND: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns. OBJECTIVE: To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients. METHODS: A cross-sectional study was conducted after enrolling the eligible DSD patients. Thorough elicitation of history and detailed clinical examination was done. Assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH & Inhibin B (where indicated), and human chorionic gonadotropin stimulation were done as per protocol. RESULTS: In total, 48 patients were included in the study. Ambiguous genitalia (58.3%) followed by hypospadias (33.3%) were common presentation. Androgen biosynthetic defect were the most commonly encountered diagnosis followed by androgen insensitivity syndrome (AIS). Swyer syndrome was diagnosed in 4.2% of cases; partial gonadal dysgenesis, ovotesticular DSD, and vanishing testis syndrome contributed to 2% of cases each. Eight cases (16.7%) who presented with isolated proximal and midshaft hypospadias for whom no diagnosis was found were categorized in the "etiology unclear" group. AR gene mutation analysis designed against specific exons did not yield any results. CONCLUSION: 46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. Most patients are reared as males and maintained the same gender identity except in isolated cases. Diagnosis of AIS remains a clinical challenge as a definite hormonal criterion does not exist and genetic mutations in AR gene may be negative. Flanking region sequencing, whole genome sequencing, and promoter region sequencing may reveal pathogenic variants. Variations in other genes regulating AR pathway may also be candidates to be studied.

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.

A Study of Cardiac Autonomic Neuropathy in Patients with Type 2 Diabetes Mellitus: A Northeast India Experience.

AIM: To investigate the prevalence and the risk factors for cardiac autonomic neuropathy (CAN) in type 2 diabetes mellitus (DM) patients. STUDY DESIGN: Cross-sectional cohort study. PLACE AND DURATION OF STUDY: This study was conducted in the Department of Endocrinology, Gauhati Medical College and Hospital, Assam, India between December 2016 to March 2018. METHODOLOGY: We included 100 patients (60 males and 40 females; age range: 36-72 years) with type 2 DM. Their clinical, biochemical, and metabolic parameters were analyzed and assessment of CAN were done based on the Ewing's criteria. RESULTS: Out of 100 patients, 60 were males and 40 were females. The mean age of the patients was 53.3 ± 10.37 years (36-72 years) and the mean duration of diabetes was 9.03 ± 6.4 years (6 months-25 years). Patients were divided into two groups: "without CAN" (CAN-) and "with CAN" (CAN+). The prevalence of CAN was 70%, with early CAN in 25%, definite CAN in 24%, and severe CAN in 21% cases The patients with CAN were older (P = 0.0005), had longer diabetes duration (11.56 vs. 3.13; P = 0.0001), higher creatinine (P < 0.0001), and lower estimated glomerular filtration rate (eGFR) (P = 0.0001) compared to patients without CAN. Retinopathy, peripheral neuropathy, and nephropathy were common in CAN + patients. On multiple logistic regression analysis, duration of diabetes [odds ratio (OR); 6.7, P < 0.0001), older age (OR; 1.07, P < 0.016), and lower eGFR (OR; 0.97, P < 0.03) were risk factors for CAN. CONCLUSION: CAN is a common microvascular complication in type 2 DM with duration of diabetes, age, and severity of nephropathy being its significant determinants.

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.

Sex Hormone Levels - Estradiol, Testosterone, and Sex Hormone Binding Globulin as a Risk Marker for Atherosclerotic Coronary Artery Disease in Post-menopausal Women.

CONTEXT: Sex hormones levels determine the risk of occurrence of coronary artery disease (CAD) in post-menopausal (PM) women. AIMS: To investigate the relationship between sex hormones (estradiol and testosterone)/sex hormone binding globulin (SHBG) and cardiovascular risk factors in PM women. In addition, we learned the association between these sex hormones/SHBG and the occurrence of atherosclerotic CAD event in PM women. SETTINGS AND DESIGN: Cross-sectional case- control study. SUBJECTS AND METHODS: Subjects recruited in the present study were from the cardiology outpatient clinic or Emergency department Guwahati Medical College and Hospital, Assam. The subjects were grouped into two categories after appropriate exclusion criteria: Cases - PM women with documented CAD (n = 40) and controls - Healthy PM women (n = 30). The medical history, clinical examination, and investigations including serum estradiol, total testosterone, SHBG, free testosterone index (FTI), high-sensitivity C-reactive protein (hs-CRP), lipid profile, carotid intima-media thickness (CIMT), fasting plasma glucose (FPG), and postprandial plasma glucose (PPPG) were done and analyzed. STATISTICAL ANALYSIS USED: Pearson correlation between sex hormones and CAD risk factors was done. The association between sex hormones and CAD risk factors among PM women was analyzed by multiple logistic regression. The statistical significance was set at the 0.05 level. RESULTS: The mean age of all the subjects was 62.27 ± 6.9 years. Among the cases, a significant positive correlation was found between total testosterone/FTI and waist circumference, W/H ratio, triglyceride levels, hs-CRP, and CIMT (P < 0.01). In addition, a significant negative correlation was found between total testosterone and FTI with high-density lipoprotein-cholesterol levels (P < 0.01). The multiple logistic regression analysis showed that total testosterone levels (P < 0.01) and SHBG (P < 0.01) are independently associated with the occurrence of atherosclerotic CAD in PM. CONCLUSION: We conclude that increased serum testosterone levels and low SHBG in PM women are associated with the development of atherosclerotic cardiovascular risk factors.

Vitamin D Status of School Children in and around Guwahati.

CONTEXT: Peripubertal and adolescent children are vulnerable to vitamin D deficiency as this is the period of rapid skeletal growth. AIMS: This study was done to assess the vitamin D status in school children between the age of 8-14 years attending the government schools in rural and urban areas of Assam in Northeast India. SETTINGS AND DESIGN: This was a cross-sectional observational study. MATERIALS AND METHODS: About 500 students (350 from rural and 150 from urban areas) were recruited in the study. Serum 25-hydroxy vitamin-D [25(OH)D], parathyroid hormone (PTH), calcium, phosphorus and alkaline phosphatase were measured in fasting state. Daily nutrition intake and sunlight exposure were assessed. STATISTICAL ANALYSIS: Student's t-test and Pearson correlation test were done to assess the association between different variables. P value <0.05 was considered significant. RESULTS: The prevalence of vitamin D deficiency was 8.4% and vitamin D insufficiency was 14.2%. There was no significant difference of mean 25(OH)D levels and sun exposure between rural and urban children. Out of 42 children with vitamin D deficiency, 36 (85.7%) had sun exposure <20% and 41 (97.6%) had calcium intake < 1000 mg/day. The rural children had a higher calcium intake as compared to urban children (P = 0.005). There was a significant positive correlation of mean 25(OH)D levels with serum calcium, sun exposure and calcium intake. CONCLUSION: The prevalence of vitamin D deficiency in peripubertal and adolescent age group children in and around Guwahati city of Assam is comparatively lower than that in other parts of the country.

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.

Fetal Skeletal Size and Growth are Relevant Biometric Markers in Vitamin D Deficient Mothers: A North East India Prospective Cohort Study.

CONTEXT: The neonatal skeletal outcomes due to maternal Vitamin D deficiency. AIMS: The aim of this study is to assess the serum 25 hydroxy Vitamin D (25[OH]D) status in pregnant women and correlate with cord blood 25(OH)D levels, femur length at 34 weeks gestation, and neonatal anthropometry (birth weight, birth length, and head circumference). SETTINGS AND DESIGN: This was prospective cohort study. SUBJECTS AND METHODS: This study was carried out in 250 healthy primigravida between 18 and 40 years of age in the third trimester of gestation attending the Obstetrics and Gynaecology Department of Gauhati Medical College, Guwahati from December 2012 to December 2015. Dietary assessment of calcium and Vitamin D intake, sunlight exposure among the pregnant mothers and fetal femur length measurements were done. The neonates were followed up at birth for biometric assessment and the estimation of cord 25(OH)D. STATISTICAL ANALYSIS USED: Chi-square test and Pearson correlation were carried out to see the association and correlation between different variables. Statistical significance was set at the 0.05 level. RESULTS: We found low Vitamin D levels (60%) in the majority of pregnant mothers and newborns (62.4%). The mean Vitamin D levels were 17.51 ± 2.24 ng/ml and 14.51 ± 1.8 ng/ml among the low Vitamin D maternal subjects and their new born, respectively. There was a significant association of maternal Vitamin D levels with sun exposure, dietary intake of Vitamin D, serum calcium, serum alkaline phosphatase levels, and serum parathyroid hormone in subjects with low Vitamin D. Fetal femur length and birth length were significantly shorter in mothers with low Vitamin D (P < 0.01). CONCLUSIONS: Maternal hypovitaminosis D was associated with adverse skeletal outcome in neonates.

Prevalence Pattern of Key Polymorphisms in the Vitamin D Receptor gene among Patients of Type 2 Diabetes Mellitus in Northeast India.

AIMS: To investigate the association between Vitamin D receptor gene polymorphisms (BsmI, TaqI and FokI) and type 2 diabetes mellitus in patients in north eastern India. SETTINGS AND DESIGN: This was a case control study with 40 cases of type 2 diabetes and 20 controls. MATERIALS AND METHODS: Genomic DNA was extracted from blood and genotyped for the single nucleotide polymorphism (SNPs) of BsmI [rs1544410], TaqI [rs731236] and FokI [rs2228570] by polymerase chain reaction and gene sequencing. Genotype distribution and allelic frequencies were compared between patients and controls. Data was expressed as mean ±standard deviation. Chi square test and t test were used to compare groups. Statistical analysis was done using SAS version 9.3 software. P value of <0.05 was considered significant. RESULTS: Body weight and BMI were significantly associated with VDR polymorphisms BsmI and TaqI while BsmI was significantly associated with HbA1C. Vitamin D deficiency was significantly greater in cases than controls. The frequency of the heterozygous genotype of the BsmI polymorphism was significantly greater in type 2 diabetics than in controls. CONCLUSIONS: Vitamin D receptor polymorphisms are associated with type 2 diabetes in our population and require larger scale studies to be considered as possible risk factors or type 2 diabetes mellitus.

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.

Grave's Disease with Severe Hepatic Dysfunction: A Diagnostic and Therapeutic Challenge.

Hepatic dysfunction in a patient with thyrotoxicosis may result from hyperthyroidism per se, as a side effect of antithyroid drugs, and causes unrelated to hyperthyroidism which sometimes causes diagnostic and therapeutic difficulties. A young female patient was admitted to our hospital with symptoms of thyrotoxicosis, diffuse goiter and ophthalmopathy along with cholestatic pattern of jaundice, and proximal muscle weakness. She was treated with propylthiouracil with gradual recovery. She was continuing her antithyroid medication with regular follow-up. The patient was readmitted a few months later with worsening thyrotoxicosis, proximal muscle weakness, fever, and a hepatocellular pattern of jaundice with sepsis. Propylthiouracil was stopped and lithium along with steroid coverage was given to control her thyrotoxicosis which was later changed to methimazole. Broad spectrum antibiotic therapy was also started but without any response. During her hospital stay, the patient also developed a flaccid paraplegia resembling Guillain-Barre syndrome. IV steroid was started for the neuropathy but meanwhile the patient succumbed to her illness. So in centers where facility for radioiodine therapy is not readily available, some definite well-tested protocols should be formulated to address such common but complicated clinical situations.

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.

Short stature with umbilical hernia - Not always due to cretinism: A report of two cases.

A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers.

Enlarged hands and feet - Not always acromegaly.

Pachydermoperiostosis maybe mistaken for acromegaly as it can present with progressive enlargement of hands and feet. We describe a 32 year old male with enlargement of hands and feet and extensive keloid formation. Family history was positive for similar complaints. X ray imaging showed normal heel pad thickness with acroosteolysis and subperiosteal new bone formation in hands and feet. IGF-1 was normal and glucose suppressed GH values were normal.

Empty sella syndrome - beyond being an incidental finding.

INTRODUCTION: Empty sella is characterized by the herniation of the subarachnoid space within the sella, which is often associated with some degree of flattening of the pituitary gland. This study was undertaken to evaluate the clinical and hormonal profile in patients with empty sella. AIMS AND OBJECTIVES: To evaluate the clinical and hormonal profile of the patients with an empty sella. MATERIALS AND METHODS: Patients undergoing a CT/MRI at our center, for various reasons but with the finding of the empty sella were included in this study. A detailed history and clinical examination was done. Apart from routine tests, hormonal evaluation included serum thyroid stimulating hormone, T4, cortisol (8 am), prolactin, total testosterone, follicle stimulating hormone, leutinizing hormone, and fasting Insulin like Growth factor 1 (IGF 1) were done. RESULTS: A total of 34 patients, diagnosed radiologically to have empty sella, were evaluated and of them 24 had primary empty sella (PES) and 10 had secondary empty sella (SES). In subjects with PES, 12 out of 24 (50%) had endocrine dysfunction. The most common endocrine dysfunction noted was hyperprolactinemia, which was seen in 5 (20.8%) patients and the most common hormonal deficiency was isolated GH deficiency seen in four patients (12.5%). CONCLUSION: The high incidence of endocrine abnormalities in patients with PES mandates that these patients should routinely be subjected to endocrine evaluation to detect these deficiencies early, and appropriate replacement instituted where necessary, thus ensuring them of a better quality of life.