LEYDIG CELL HYPOPLASIA: A UNIQUE PARADOX IN THE DIAGNOSIS OF 46,XY DISORDERS OF SEX DEVELOPMENT.

OBJECTIVE: Disorders of sex development (DSD) are defined as conditions in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female. Mutations in genes present in X, Y or autosomal chromosomes can cause abnormalities of testis determination or 46,XY DSD. Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive endocrine syndrome of 46,XY DSD. Our objective here is to present the case of a 27-year-old, phenotypic female who presented with primary amenorrhea and later found to have LCH. METHODS: We used formatted history and clinical examination followed by necessary hormonal investigations. The diagnosis was confirmed by histopathology of resected testes and genetic mutation analysis. RESULTS: The patient's physical examination was unremarkable except 2 ovoid lumps present in the inguinovulvar region. There were no müllerian structures on sonography. Estrogen and both basal and stimulated testosterone levels were low whereas luteinizing hormone and follicle-stimulating hormone were high. Her chromosomal sex was found to be 46,XY. The histopathology of the resected inguinal lumps showed atrophic testicular change lacking Leydig cells with relative preservation of Sertoli cells. Genetic mutation analysis failed to reveal any significant aberration in the LHCGR gene. At present she is on estrogen replacement therapy having undergone bilateral orchidectomy and vaginoplasty. CONCLUSION: LCH represents a unique example of diagnostic dilemma in gender identification. It requires a multidisciplinary approach for optimum outcome.

Expression of neutrophil elastase and myeloperoxidase mRNA in patients with newly diagnosed type 2 diabetes mellitus.

BACKGROUND AND AIMS: Neutrophil elastase and myeloperoxidase enzymes protect us from infection by killing pathogens. However, exaggerated activities of these enzymes can induce tissue damage, inflammation and oxidative stress. The present study was aimed to explore the expressions of neutrophil elastase and myeloperoxidase mRNA in the peripheral blood leukocytes (PBL) in patients with newly diagnosed type 2 diabetes mellitus. METHODS: In this cross-sectional study, 104 participants including 65 normoglycemic control subjects and 39 newly diagnosed type 2 diabetes patients were recruited. Glycemic and metabolic markers were evaluated from fasting blood samples. The mRNA levels of neutrophil elastase and myeloperoxidase genes in the PBL were quantified by real-time quantitative PCR. RESULTS: Compared to control subjects, diabetes patients showed a significant down regulation of both neutrophil elastase (p = 0.039) and myeloperoxidase (p = 0.023) mRNA expressions in the PBL. The neutrophil elastase and myeloperoxidase mRNA levels showed a negative trend with fasting glucose levels but did not show any significant correlations with HbA1c, insulin level, insulin resistance or sensitivity status. CONCLUSIONS: It was concluded that type 2 diabetes mellitus is associated with a decrease in neutrophil elastase and myeloperoxidase gene expression in the PBL.

A Hospital-Based Study of Iodine Nutrition Status of Breastfeeding Mothers in Bangladesh.

Adequacy of iodine nutrition status in breastfeeding mothers is vital in preventing iodine deficiency disorder (IDD) in neonates and children. The aim of the study was to assess urinary iodine status in breastfeeding mothers attending Bangabandhu Sheikh Mujib Medical University (BSMMU) hospital in Bangladesh. In this cross-sectional study carried out from January 2014 to January 2015, urinary iodine (UI; µgm/L) level of 266 mothers (age 26.6 ± 4.7 years (mean ± SD), exclusively breastfeeding: 132 and nonexclusively breastfeeding: 134), recruited on consecutive basis from BSMMU outdoor and indoor, were measured in spot urine following the wet digestion method. Median UI in the participants was 298.6 (interquartile range, IQR 206.6-454.9) µgm/L and only 6.4% lactating mother had low UI (i.e. <100 µgm/L). There was no difference of median UI in relation to exclusive or nonexclusive breast feeding, presence of goiter, parity, and age of breastfed baby (p=ns for all). But median UI was higher in older subjects (≥30 years vs. <30 years: 364.4 (228.4-529.9) vs. 283.7 (205.4-434.0); median (IQR) p=0.040)), with good socioeconomic condition (good vs. average or less: 328.2 (243.8-510.0) vs. 274.4 (200.0-433.3); median (IQR); p=0.020), and in those who are aware regarding the importance of iodine (aware vs. unaware: 316.6 (225.2-506.3) vs. 270.1 (196.0-407.2); median (IQR); p=0.018). The proportion of participants with UI < 100 µgm/L was similar in all the groups. Logistic regressions to predict deficient UI status revealed none of the variables to be an independent predictor. This study indicates that deficient iodine nutrition status in Bangladeshi breastfeeding mothers is not frequent at present.

Neutrophil elastase and myeloperoxidase mRNA expression in overweight and obese subjects.

Neutrophil elastase and myeloperoxidase enzymes have been implicated in high-fat diet-induced obesity, insulin resistance (IR) and atherosclerosis in animal models. The aim of the present study was to explore neutrophil elastase and myeloperoxidase mRNA expressions in the peripheral blood leukocytes (PBL) in overweight and obese subjects, and to correlate those mRNA expressions with BMI, IR and cardiovascular biomarkers. In this cross-sectional study, 74 apparently healthy subjects including 22 lean, 27 overweight and 25 obese subjects were recruited. Cardiovascular and metabolic biomarkers were evaluated from fasting blood samples. The mRNA levels of neutrophil elastase and myeloperoxidase genes in the PBL were quantified by real-time PCR. Compared to lean group, the overweight and obese groups showed significant upregulation of both neutrophil elastase (p < 0.001) and myeloperoxidase (p < 0.03) mRNA expressions in the PBL. But no difference was found between overweight and obese groups. The neutrophil elastase and myeloperoxidase mRNA levels showed significant positive correlation with BMI, serum triglyceride, atherogenic index of plasma and 10-year risk of developing cardiovascular disease. But no correlation was found with glucose, insulin or IR. It was concluded that the neutrophil elastase and myeloperoxidase genes are up-regulated in both overweight and obese subjects and are associated with BMI and markers of cardiovascular disease.