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Contains fulltext : 245825.pdf (Publisher’s version ) (Closed access) BACKGROUND: Phaeochromocytoma or paraganglioma (collectively known as PPGL) in pregnant women can lead to severe complications and death due to associated catecholamine excess. We aimed to identify factors associated with maternal and fetal outcomes in women with PPGL during pregnancy. METHODS: We did a multicentre, retrospective study of patients with PPGL and pregnancy between Jan 1, 1980, and Dec 31, 2019, in the International Pheochromocytoma and Pregnancy Registry and a systematic review of studies published between Jan 1, 2005, and Dec 27, 2019 reporting on at least five cases. The inclusion criteria were pregnancy after 1980 and PPGL before or during pregnancy or within 12 months post partum. Eligible patients from the retrospective study and systematic review were included in the analysis. Outcomes of interest were maternal or fetal death and maternal severe cardiovascular complications of catecholamine excess. Potential variables associated with these outcomes were evaluated by logistic regression. FINDINGS: The systematic review identified seven studies (reporting on 63 pregnancies in 55 patients) that met the eligibility criteria and were of adequate quality. A further 197 pregnancies in 186 patients were identified in the International Pheochromocytoma and Pregnancy Registry. After excluding 11 pregnancies due to potential overlap, the final cohort included 249 pregnancies in 232 patients with PPGL. The diagnosis of PPGL was made before pregnancy in 37 (15%) pregnancies, during pregnancy in 134 (54%), and after delivery in 78 (31%). Of 144 patients evaluated for genetic predisposition for phaeochromocytoma, 95 (66%) were positive. Unrecognised PPGL during pregnancy (odds ratio 27·0; 95% CI 3·5-3473·1), abdominal or pelvic tumour location (11·3; 1·5-1440·5), and catecholamine excess at least ten-times the upper limit of the normal range (4·7; 1·8-13·8) were associated with adverse outcomes. For patients diagnosed during pregnancy, α-adrenergic blockade therapy was associated with fewer adverse outcomes (3·6; 1·1-13·2 for no α-adrenergic blockade vs α-adrenergic blockade), whereas surgery during pregnancy was not associated with better outcomes (0·9; 0·3-3·9 for no surgery vs surgery). INTERPRETATION: Unrecognised and untreated PPGL was associated with a substantially higher risk of either maternal or fetal complications. Appropriate case detection and counselling for premenopausal women at risk for PPGL could prevent adverse pregnancy-related outcomes. FUNDING: US National Institutes of Health.

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 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 29-year-old lady presented at 16 weeks of gestation, a case of Graves’ disease on anti-thyroid drug with uncontrolled thyrotoxic symptoms despite regular medication. Therapy with methimazole and propranolol was started at 12 weeks of gestation didn’t show clinical and biochemical normalization even with the maximum dose of antithyroid drug permissible at pregnancy. At gestational week 20, T4 and T3 remained elevated with suppressed serum TSH and high levels of TSH receptor antibody levels (TRAb =39.5 U/L, Normal value

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.

To assess the correlation between urinary C peptide creatinine ratio with serum C peptide, serum insulin and its correlation with clinical and biochemical parameters of metabolic syndrome. A total of 100 subjects more than 18 years of age with metabolic syndrome according to ATP III criteria with 100 controls were included in a prospective observational study for a period of 1.5 years. Individual parameters of metabolic syndrome was higher in females with hypertriglyceridemia was most common and hyperglycaemia least common parameter of metabolic syndrome. Fasting urinary C peptide creatinine ratio and Stimulated urinary C peptide correlate significantly with fasting serum C peptide (p2.7 can be used as a parameter to distinguish individual with and without metabolic syndrome. Urinary C peptide creatinine ratio correlate with serum C peptide and parameters of metabolic syndrome and can be used as a non-invasive simple tool to assess insulin resistance and also to distinguish patients with and without metabolic syndrome.

Introduction: Acromegaly is chronic progressive disease with multisystem involvement characterised by an excess secretion of growth hormone and increased circulating insulin like growth factor 1 concentration.Aims and Objectives: To assess surgical outcome of acromegaly patients at tertiary care institute using SF 36 quality of life questionnaire. SF-36 scores comprise 3 components: the physical component summary (PCS), the mental component summary (MCS) and role-social component summary (RCS).30 acromegaly patients admitted in Guwahati medical college were enrolled in study and followed up post operatively for surgical remission. All participants completed the SF-36 preoperatively, 1 year and 2 years postoperatively.Material and Method: Out of 30 patients 6 patients had surgical remission post operatively on the basis of postoperative glucose suppressed GH Level done after 12 weeks. Preoperatively subscale scores (physical functioning, role physical, general health) which were below the set standards for the normal population show significant postoperative improvements along with mental health (MH) scores. Similarly, PCS, MCS and RCS scores changed significantly after surgery. We also compared the QOL of 6 patients whose peak GH level was < 0.4 µg/L during postoperative oral glucose tolerance testing with those patients whose nadir GH level was ≥ 0.4 µg/L. There was significant difference between partial and complete remission group in subscale score role physical, social function and mental health. Similarly, PCS and RCS score significantly different in partial and complete remission group than MCS score.Conclusions: QOL is considerably reduced in patients with acromegaly compared to general population which improves significantly after surgical treatment. Patients achieving the new remission criteria had significant improvement in physical and social components than those who did not.

Introduction: Central Diabetes insipidus (CDI) is a rare disorder caused vasopressin deficiency characterized by the excretion of copious volumes of unconcentrated urine. Objective: To assess the etiological,clinical, biochemical and radiological spectrum of Central DI in our institute and long term follow up of these cases. Material and Methods:32 patients with Central DI admitted in Department of Endocrinology,Guwahati Medical College, Assam in the last 2.5 years were included.Detailed clinical assessment, biochemical evaluation and MRI (Magnetic Resonance imaging) brain were done in all the patients. Central DI without any identifiable cause was considered Idiopathic and those with structural lesion in hypothalamic pituitary region were considered organic. Result: Idiopathic CDI was present in 12(37.5%) patients and 20(62.5%) patients had organic CDI with acute onset of presentation.12(60%) patients with organic CDI present with neurological symptoms but 8(40%) patients had no neurological symptoms even with organic cause. Pituitary dysfunction was common in organic CDI as compared to idiopathic CDI. Paediatric patients commonly present with organic cause for CDI with low cortisol most common hormonal deficit. One patient of idiopathic CDI with normal stalk thickness at baseline presented with clinical and radiological features of (Langerhans cell histiocytosis) on follow up. Conclusion: Organic CDI more likely to have acute onset of presentation than idiopathic CDI and even in absence of neurological features. Paediatric patients commonly have organic cause for CDI. We propose the paramount importance of long-term clinical follow-up and reassessment of endocrine function in patients with CDI for definitive diagnosis of autoimmune and inflammatory causes of idiopathic CDI and timely treatment of pituitary ypofunction.

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.

Aims: Thyroid dysfunction is commonly encountered in pregnancy and can affect maternal and Fetal outcomes. Limited data are available from north east India on the prevalence of various thyroid disorders in pregnancy. The present study was hence conducted to evaluate the prevalence of thyroid disorders in a large government hospital in Assam. Study Design: Prospective cohort study. Place and Duration of Study: Sample: Department of endocrinology and department of obstetrics, Gauhati medical college, Guwahati between may 2011 to April 2013. Methodology: Pregnant women irrespective of gestational age attending the antenatal clinic of Gauhati medical college were screened for thyroid dysfunction by estimation of serum free t34 (FT4), TSH and thyroid peroxidase antibodies (TPOAB). Subjects with known thyroid disorders, chronic illness or on medications known to affect thyroid status were excluded from the study. Results were interpreted as per the American thyroid association (ATA) 2011 guidelines. Results: A total of 542 pregnant women were enrolled for this prospective cohort study. The mean age was 23.85±4.04 yrs. Of the 542 women screened, 69.18% were Euthyroid, 21.58% had subclinical hypothyroidism (SCH), 5.35% had overt hypothyroidism (OH), hyperthyroidism was Original Research Article Saikia et al.; BJMMR, 10(12): 1-7, 2015; Article no.BJMMR.20534 2 observed in 2.39% and 1.47% had gestational Thyrotoxicosis. TPOAB were positive in 18.08% of women. Conclusion: A high prevalence of thyroid disorders specially hypothyroidism were seen in this study using the newer ATA diagnostic criteria emphasizing the need for screening of all women during pregnancy.

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 3 ng/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.

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.

Background: A retrospective study of the presentation of primary hyperparathyroidism was done at a tertiary care centre in northeast India and was compared with variable features in other parts in India and worldwide.Methods: The clinical presentation, biochemical parameters, radiological and histopathology findings of 27 subjects of primary hyperparathyroidism who presented to us over a period of 5 years were retrospectively analysed. Chi-square test, student t test and 'one way ANOVA' were used to compare different variables. Statistical significance was set at p

Type 1 diabetes (T1D) is the most common form of diabetes in children in Western countries. There have been no large studies of childhood diabetes from India. We undertook the MEDI study (Multicenter Survey of Early Onset Diabetes in India) to assess the proportion of various subtypes of diabetes among the young subjects presenting to the endocrinology divisions of seven large teaching hospitals in different regions of India. In addition, we compared the clinical features of T1D and type 2 diabetes (T2D) in Indian subjects. Patients with onset of disease at younger than 20 years of age were included in this study. Six hundred and three subjects (603) were studied of whom 535 subjects (89%) had T1D, 36 (6%) had T2D, 18 (3%) had diabetes related to tropical pancreatitis or other forms of chronic pancreatitis, while other subtypes accounted for the rest. Compared to those with T2D, subjects with T1D were younger, had a lower C-peptide level, higher prevalence of ketosis, lower prevalence of acanthosis nigricans, and lower LDL and triglyceride levels. When compared with that of T2D, a higher proportion of patients with T1D were positive for GAD-65 and IA-2 antibodies, and this difference was statistically significant for GAD-65 antibodies. Overall, this large multicenter study showed that T1D is the commonest form of diabetes in childhood. T2D is the next most common kind, while chronic pancreatitis-related diabetes is uncommon.

Introduction: An increased prevalence of vitamin D deficiency has been reported from across the globe including India. Various studies have shown an intrinsic relation between various parameters of maternal and fetal wellbeing with maternal vitamin D status during pregnancy. Aims: To look for any association of vitamin D status during pregnancy with the modifiable factors – extent of sun exposure, sunscreen use, vegetarian diet, dietary calcium intake, and multivitamin supplementation. Materials and Methods: A total of 50 pregnant females, aged 20–40 years were studied during the first trimester of pregnancy. Fifty age and body mass index (BMI) matched females were taken as controls. Serum 25(OH)D was measured by radioimmunoassay (Diasorin). Result: Forty-two percent of the cases were found to have vitamin D deficiency and 14% were found to have vitamin D insufficiency, whereas 20% of the controls had vitamin D deficiency and 24% had vitamin D insufficiency (P =0.0375). There was a significant association of 25(OH)D levels with extent of sun exposure, sunscreen use, and vegetarian diet. There was no association of 25(OH)D levels with multivitamin supplementation or dietary calcium intake. Conclusion: Vitamin D deficiency was less in our study group as compared with that reported in other Indian studies. Sun exposure, sunscreen use, and vegetarian diet are important modifiable variables significantly associated with vitamin D status in pregnancy.

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. Image: Immunohistochemical staining of poorly differentiated tumor showing positivity for proliferative marker Ki-67., JOP. Journal of the Pancreas, Vol 15, No 5 (2014): September - p. 413-540

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.

Dual ectopic thyroid is a rare presentation of thyroid ectopia. Only a few cases have been reported in the world literature. Dual ectopic thyroid in the presence of a normally located thyroid is even rarer. We report a case of dual ectopic thyroid in the lingual and submandibular areas in a seventeen-year-old female with hypoplastic thyroid gland in its normal location. The patient presented with a midline swelling at the base of tongue with dysphagia. Thyroid function test revealed primary hypothyroidism. Ultrasonography of the neck showed hypoplastic thyroid in its normal location. A thyroid scan with Technetium-99 m pertechnate showed two intensely hyperfunctioning foci of ectopic thyroid tissue at a higher level in the midline consistent with dual ectopic thyroid, one at the base of tongue and the other in submental region. No uptake was seen in the normal bed.

Background/aim Pituitary adenomas (PA) are the most common tumours of the pituitary gland. Clinicopathological characteristics of these tumours may vary from population to population. The present study aimed to understand the detailed clinical and pathological characteristics of surgically resected PA in the region of Northeast India. Patients and methods Thirty-two consecutive cases of PA diagnosed and operated at Gauhati Medical College were studied for clinical, pathological, and treatment characteristics in this study between January 2014 and December 2015. The patient group included 20 female and 12 male patients with a median age of 37 years (range: 22–58 years). Results A total of 13/32 (40.63%) cases were nonfunctioning adenomas. Among the hormonally active PA, prolactin-producing adenomas were most common (25%), followed by growth hormone-producing adenomas (18.8%) and adrenocorticotrophic hormone-producing adenomas (15.6%). The most common symptom was headache, followed by visual disturbances, galactorrhoea, acromegaloid and cushingoid features. Menstrual disturbances were present in 50% of the female patients. 23.1% of the cases of nonfunctioning PA were negative for all anterior pituitary hormones on immunohistochemistry. Conclusion PA can have varied presentations. Detailed clinical, hormonal and pathological evaluation is essential for better understanding the nature of the tumour growth and its progression. This study is the first of its kind in the region of Northeast India, showing the relationship of the functioning and nonfunctioning PA with their hormonal profile and immunohistochemical analysis.

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.