Spectrum of Adrenal Dysfunction in Hemoglobin E/Beta Thalassemia.

BACKGROUND: Adrenal insufficiency (AI) in hemoglobin E (HbE)/beta thalassemia, including evaluation of mineralocorticoid axis, had not been studied. AIMS AND OBJECTIVES: In this study, we attempted to evaluate the prevalence of AI in HbE/beta thalassemia and wanted to determine if the prevalence of AI varied according to severity of HbE/beta thalassemia and transfusion requirements. METHODS: In this observational, cross-sectional study, 104 patients with HbE/beta thalassemia were evaluated. Among them, 57 and 47 were transfusion dependent and non-transfusion dependent. According to Mahidol criteria, patients were classified into mild (n = 39), moderate (n = 39), and severe (n = 26) disease. Early morning (8 Am) serum cortisol, plasma ACTH, and plasma aldosterone, renin were measured. Patients with baseline cortisol of 5 to 18 µg/dL underwent both 1 µg and 250 µg short Synacthen test. According to these results, patients were classified as having either normal, subclinical, or overt (primary/secondary) adrenal dysfunction. RESULTS: Adrenal insufficiency was found in 41% (n = 43). Among them 83.7% (n = 34) had primary AI and 16.3% (n = 9) had secondary AI. Thirty-three patients (31%) with normal or elevated ACTH and with low or normal aldosterone with high renin were diagnosed as having subclinical AI. There was no difference in prevalence of AI between transfusion dependent and non-transfusion dependent (P = .56) nor was there was any difference in prevalence of AI according to disease severity (P = .52). CONCLUSION: Adrenal insufficiency is common in HbE/beta thalassemia and is independent of transfusion dependency and disease severity.

Thalidomide-Induced Primary Amenorrhea in a Patient With HbE/Beta-Thalassemia.

An 18-year-old girl was evaluated for primary amenorrhea. She was diagnosed with hemoglobin E (HbE)/beta-thalassemia during childhood and needed blood transfusions every month to maintain adequate hemoglobin levels. She was started on thalidomide to reduce her transfusion requirements at 12 years of age and became transfusion independent after 6 months. She had normal stature and Tanner stage 4 sexual maturation, but she failed to attain menarche. Investigations revealed that she had elevated serum gonadotropin levels, indicating primary ovarian dysfunction. Her karyotype was 46,XX. Ultrasonographic examination demonstrated the absence of follicles in both ovaries. There was no evidence of abnormalities of the urogenital tract. Thalidomide was stopped, and she attained menarche spontaneously 3 months thereafter. Subsequently, her menstrual cycles were regular. Repeat ultrasound scans demonstrated the presence of ovarian follicles as well as an increase in ovarian volume. Mechanistic links between ovarian dysfunction and thalidomide remain to be found. One possibility is impaired blood flow and follicular development.

Associations of insulin-induced lipodystrophy in children, adolescents, and young adults with type 1 diabetes mellitus using recombinant human insulin: a cross-sectional study.

OBJECTIVE: Insulin-induced lipodystrophy is of two types, lipohypertrophy and lipoatrophy. Lipodystrophy often leads to worsening of glycemic control in type 1 diabetes mellitus. Our objective was to identify the clinical, immunological, and other factor(s) associated with the development of lipodystrophy. METHODS: In this observational cross-sectional hospital-based study, 95 children, adolescents, and young adults with type 1 diabetes mellitus were observed for the development of lipodystrophy. Injection technique, insulin dose, and glycemic parameters were noted. Serum TNF-α, IL-1ß, and anti-insulin antibody levels were measured. Histopathological examination of the lipodystrophic area was done in a small number of people. RESULTS: Among the participants, 45.2% of participants had lipohypertrophy and 4.2% had lipoatrophy exclusively; 3.1% of participants had coexisting lipohypertrophy and lipoatrophy. Improper injection site rotation technique was more common in participants with lipohypertrophy in comparison to those without lipodystrophy. The age of onset of diabetes, duration of insulin use, and the number of times of needle reuse were not significantly different between the lipohypertrophy and nonlipodystrophy groups. Serum TNF-α, IL-1ß, and anti-insulin antibody levels; HbA1c; rate of hypoglycemia; and body weight-adjusted dose requirement were higher among the participants with lipohypertrophy. On histopathology, scant, or no inflammatory infiltrate was found in lipoatrophic and lipohypertrophic areas, respectively. CONCLUSION: Improper insulin injection technique and higher levels of proinflammatory cytokines and anti-insulin antibody are associated with lipodystrophy in type 1 diabetes mellitus. HbA1c and rate of hypoglycemia are higher in people with lipodystrophy.

A young woman with oligomenorrohea and dysphagia.

A 35-year-old house wife attended our clinic with oligomenorrhea for the last three months. She also complained of diffuse body ache, joint pain and decreased bowel movements. Very often she experienced choking sensation in the throat and had difficulty in swallowing solid food. On examination, goitre was absent but a globular pink colour mass was detected at the base of the tongue.

DETERIORARON OF OVARIAN FUNCTION AFTER TOTAL ABDOMINAL HYSTERECTOMY WITH PRESERVARON OF OVARIES.

OBJECTIVE: To evaluate ovarian function after total abdominal hysterectomy in premenopausal women. METHODS: In the present cross-sectional study, we enrolled 52 healthy female subjects having normal menstrual cycle as controls and 37 female patients (age <45 years) who had undergone total abdominal hysterectomy (TAH) with preservation of at least one ovary for the evaluation of ovarian function. Serum antimüllerian hormone (AMH) and follicle-stimulating hormone (FSH) were measured by enzyme-linked immunosorbent assay in both groups. Transvaginal Doppler ultrasonography was done to measure ovarian stromal blood flow indices (resistive index [RI] and pulsatility index [PI]). The means obtained from different sample groups were compared using the nonparametric Mann-Whitney U test, and correlations between two variables were evaluated using the Spearman nonparametric correlation test. A value of P<.05 was considered statistically significant. RESULTS: Mean postoperative duration of patients who had undergone hysterectomy was 2.5 years. Mean serum AMH level was 7.68 ± 6.70 ng/mL in the cases, significantly lower than the level in controls (10.98 ± 7.83 ng/mL) (P = .016). Serum FSH level in controls was 12.01 ± 6.27 µIU/mL, which was significantly higher in the cases (20.27 ± 12.91 µIU/mL) (P = .001). An inverse correlation between serum AMH and FSH was observed (P = .0006; r = -0.4583). However, the ovary RI and PI values in both groups were similar. CONCLUSION: TAH affects ovarian function, despite normal ovarian blood supply. ABBREVIATIONS: AMH = antimüllerian hormone FSH = follicle-stimulating hormone RI = resistive index PI = pulsatility index TAH = total abdominal hysterectomy.

Tuberculosis of the thyroid gland: two case reports.

Tuberculosis of the thyroid gland is a rare entity even in countries like India where tuberculosis is endemic. The patients may present with thyroid swelling, inflammation and very rarely thyroid dysfunction. Caseous necrosis and epithelioid cell granulomas on fine-needle aspiration cytology and histopathological examination are diagnostic. We present two cases of thyroid gland tuberculosis. One patient had subclinical thyrotoxicosis with presentation mimicking acute bacterial thyroiditis. The other patient had a solitary thyroid nodule with normal thyroid function. Involvement of other organs was absent in both cases. Proper diagnosis may avoid unnecessary surgical interventions.

A Case of Hemophagocytic Syndrome due to Tuberculosis: Uncommon Manifestation of a Common Disease.

Hemophagocytic syndrome, also known as hemophagocytic lymphohistiocytosis (HLH), is the manifestation of immune dysregulation. It is associated with ineffective but exaggerated immune response and infiltration of active lymphocytes and histiocytes in various organs. This devastating clinical condition has myriad of clinical and biochemical manifestations such as fever, splenomegaly, pancytopenia, hypertrygliceridemia, and hyperferritinemia. It can be either primary or secondary. Primary HLH usually presents in childhood. Secondary HLH occurs due to infection mostly viruses but other aetiologies are also important as early detection and treatment may improve survival. Hemophagocytosis due to tuberculosis is uncommon. Only handful of cases have been reported mostly in immunocompromised patients. We report a case of hemophagocytic syndrome associated with disseminated tuberculosis in an immunocompetent women highlighting early diagnosis and treatment is a demanding need in this devastating disease.