Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad.

We report the case history of a 32-year-old man with no phenotypical abnormalities who presented with infertility. Semen analysis revealed azoospermia and testicular biopsy confirmed Sertoli cell-only (SCO) syndrome. Karyotyping revealed 47,XYY and pituitary hyperplasia was found on MRI pituitary. In our patient, 47,XYY karyotype is likely to have given rise to SCO syndrome that in turn resulted in pituitary hyperplasia. The patient was evaluated by various members of the multidisciplinary team including the pituitary surgeon, endocrinologist and andrologist. The patient's partner successfully delivered a healthy baby via in vitro fertilisation with donor sperm. This triad of diagnoses (SCO syndrome, 47,XYY karyotype and pituitary hyperplasia) has not been reported previously. SCO syndrome should be considered in the presence of azoospermia, elevated follicle-stimulating hormone, low inhibin-B and normal testosterone levels. Our case report also highlights the importance of excluding genetic causes of infertility even when the patient has no phenotypical abnormalities.

The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.

OBJECTIVES: To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians. METHODS: The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. The frequency of the CAP+1 (A-->C) polymorphism was determined and an analysis of the red cell indices, HbA(2) levels, iron status, and alpha-globin genes was carried out in 35 heterozygotes. RESULTS: Based on an analysis of 1075 beta-thalassemia alleles the CAP+1 (A-->C) mutation constituted 3.2% of north Indians. There was a wide spectrum of phenotypic severity in compound heterozygotes; 18 of 30 were transfusion dependent. There was a very high frequency of the -/- genotype of the Xmn-1(G)gamma polymorphism in compound heterozygotes. Analysis of 35 heterozygotes indicated that approximately half were hematologically normal and therefore genuine 'silent' carriers. CONCLUSIONS: Compound heterozygotes for CAP+1 (A-->C) and other severe beta-thalassemia alleles are phenotypically severe enough to necessitate appropriate therapy and counseling. The unexpected severity of these interactions may be due, in part, to the high frequency of beta-thalassemia alleles associated with the Xmn-1(G)gamma- allele in Indian populations. It is concluded that the CAP+1 (A-->C) mutation can pose serious difficulties in screening and counseling programs in populations in which it occurs at a significant frequency.

Fine needle aspiration cytology of low grade endometrial stromal sarcoma: a case report.

BACKGROUND: Endometrial stromal sarcoma (ESS) is a rare neoplasm and is composed of E cells closely resembling normal proliferative endometrial stromal cells. Because of its rarity, the preoperative diagnosis is difficult for clinicians. These tumors are rarely subjected to fine needle aspiration (FNA), and the cytologic diagnosis is also difficult, as the differential diagnosis is leiomyosarcoma/cellular leiomyoma. CASE: A 23-year-old woman presented with a history of prolonged vaginal bleeding. The diagnosis on FNA was given as sarcoma with the possibility of low grade ESS or leiomyosarcoma. On histopathologic examination, the diagnosis was confirmed to be low grade ESS. CONCLUSION: Aspirates of low grade ESS are extremely cellular, with cohesive tissue fragments of monotonous, small, oval cells with bland chromatin tightly women in a metachromatic, extracellular matrix. The differential diagnosis should include a cellular leiomyoma and leiomyosarcoma.

Delayed presentation of amniotic fluid embolism: lessons from a case diagnosed at autopsy.

Amniotic fluid embolism (AFE) syndrome, a catastrophic cause of respiratory failure typically occurs during labour, or soon after delivery. Systemic hypotension is the most prominent haemodynamic alteration documented in patients with AFE, a consequence principally of severe left-sided heart failure. A 22-year-old female was admitted to the respiratory intensive care unit with severe eclampsia and acute respiratory failure 4 h following delivery. Her blood pressure was elevated (systolic 150-180 mm Hg, diastolic 90-110 mm Hg) throughout the admission. She succumbed in spite of therapy for eclampsia and mechanical ventilation. Autopsy revealed large numbers of polygonal, anucleate foetal squames and mucin in the pulmonary vasculature typical of AFE while changes of eclampsia were found in the liver and kidneys. It appears that AFE syndrome can have a delayed presentation, as late as 4 h after delivery and haemodynamic collapse may not be mandatory if the patient has coexisting systemic hypertension secondary to severe eclampsia.

Carcinosarcoma of urinary bladder mimicking vesical calculus: a case report.

We report a 50 year old male who presented with a short history of gross hematuria. An ultrasonogram detected a mass arising from the right lateral wall of the urinary bladder. Computed tomography of the abdomen revealed that the mass was a calcified lesion mimicking a bladder stone. Cystoscopy confirmed the presence of the calcified lesion and biopsy revealed a rare biphasic tumor of the urinary bladder comprising of osteosarcoma and a papillary urothelial neoplasm of low malignant potential. The rarity of this tumor and its associated exuberant calcification make this case an interesting one.

Histopatholgical spectrum of thymic neoplasms: twelve-year experience at a referral hospital in north India.

This study was undertaken to determine the histopathological spectrum and clinical profile of thymic neoplasms at a tertiary referral care centre. A total of 96 thymectomy specimens were received during the study period (1992-2004), which consisted of 54 neoplasms and 42 benign lesions. Among the neoplasms there were 48 thymic epithelial tumors, 3 thymolipomas and 3 thymic carcinoids. The former comprised of 36 male (75%) and 12 female patients (25%) ranging in age from 2-70 years (mean 37 years). Among paraneoplastic syndromes in thymic epithelial tumours, 27 out of 48 (56.25%) cases were associated with myasthenia gravis and one case was associated with pure red cell aplasia. The most frequent histological subtype was cortical thymoma (43.24%) followed by predominantly cortical (24.32%) and well-differentiated thymic carcinoma (18.92%). On staging, all cases of mixed and predominantly cortical subtype were stage 1 whereas one medullary and 2 cortical thymomas and 4 well differentiated thymic carcinoma (WDTC) showed pleural and pericardial invasion (stage III). This study has revealed that half of thymic epithelial tumours presented as myasthenia gravis. The cortical thymoma was the most frequently encountered histologic subtype and most commonly associated with myasthenia gravis.

An unusual cause of skin "tumours" in a renal transplant recipient.

Renal transplant recipients on immunosuppression are at increased risk of developing skin cancers as well as opportunistic infections though it is usually not difficult to clinically differentiate cutaneous fungal infections from skin tumours. We describe a case of tinea capitis in a renal transplant recipient presenting with such an exuberant inflammatory reaction and nodule formation that it was clinically mistaken to be an appendigeal tumor.

Hematological disorders in Down syndrome: ten-year experience at a Tertiary Care Centre in North India.

A total of 239 cases of Down syndrome (DS) were seen in the genetic clinic between 1992 and 2003, of which of 15 had hematological manifestations at presentation. These comprised 4 cases of transient myeloproliferative disorder (TMD), 3 cases of TMD/acute leukemia, 4 cases of acute leukemia (AL), 2 of dual deficiency anemia, and 1 case each of myelofibrosis and idiopathic thrombocytopenia. This study emphasizes the fact that an abnormal hemogram in a DS patient does not necessarily indicate AL/TMD, as a considerable number of the cases in this study had other hematological abnormalities. TMD can be differentiated from acute leukemia only on follow-up.

Tuberculous dilated cardiomyopathy: an under-recognized entity?

BACKGROUND: Tuberculosis (TB) is a common public health problem in many parts of the world. TB is generally believed to spare these four organs-heart, skeletal muscle, thyroid and pancreas. We describe a rare case of myocardial TB diagnosed on a post-mortem cardiac biopsy. CASE PRESENTATION: Patient presented with history suggestive of congestive heart failure. We describe the clinical presentation, investigations and outcome of this case, and review the literature on the involvement of myocardium by TB. CONCLUSION: Involvement of myocardium by TB is rare. However it should be suspected as a cause of congestive heart failure in any patient with features suggestive of TB. Increasing recognition of the entity and the use of endomyocardial biopsy may help us detect more cases of this "curable" form of cardiomyopathy.

Coeliac disease as a cause of unusually severe anaemia in a young man with idiopathic pulmonary haemosiderosis.

Idiopathic pulmonary haemosiderosis (IPH) is characterized by a triad of recurrent episodes of alveolar haemorrhage, haemoptysis and iron deficiency anaemia. The combination of IPH and coeliac disease (CD) is extremely rare though both diseases may have a common pathogenetic link. As illustrated by our case CD should be specifically looked for in patients with IPH, especially those in whom the severity of anaemia is disproportionate to radiologic findings even in the absence of gastrointestinal symptoms since both diseases may benefit from a gluten-free diet.

Haematological profile of childhood visceral leishmaniasis.

Visceral leishmaniasis is the most severe form of the disease affecting children. Definite diagnosis relies on the demonstration of the parasite in various tissues. Bone marrow examination is a well accepted method, but has sensitivity between 60-85%. In the present study we analyzed other associated bone marrow features in 28 cases of pediatric leishmaniasis, which would help raise the suspicion level and thus bring about more positive results. Pancytopenia was observed in 54% cases and bicytopenias in another 20.5% cases. Peripheral absolute lymphocyte count did not increase in any case. Increase in plasma cells (mean 6.7%) and increase of phagocytic cells (28.5%) with haemophagocytosis (21.43%) was observed frequently in the bone marrow.