Myxedema crisis and ovarian hyperstimulation in a child with Down syndrome.

OBJECTIVES: Myxedema crisis, a fatal complication of severe hypothyroidism, is extremely rare in children and treatment guidelines are lacking. Since availability of intravenous levothyroxine is limited in resource poor settings, myxedema crisis can be treated with oral levothyroxine and/or oral liothyronine (if necessary), in the absence of cardiac risk factors, thus hastening the recovery and significantly decreasing the associated morbidity and mortality. In the background of untreated hypothyroidism, a possible association of ovarian hyperstimulation syndrome (OHSS) and reactive pituitary hyperplasia should be kept in mind, thus preventing unnecessary interventions. CASE PRESENTATION: A 13-year-old girl child with Down syndrome, presented with myxedema crisis, as initial presentation of untreated hypothyroidism. CONCLUSIONS: Annual screening, timely diagnosis of hypothyroidism, and early initiation of thyroid hormone supplementation will prevent associated physical and neurocognitive morbidity in children, especially those with Down syndrome. Importance of oral liothyronine supplementation in myxedema crisis, has been highlighted in this case report.

Is Paget Disease of Bone more Common in South India? Clinical Characteristics, Therapeutic Outcome and follow-up of 66 Patients from Tamil Nadu.

INTRODUCTION: Paget disease of bone (PDB) is a disorder of altered bone remodeling mainly characterized by increased osteoclastic activity. While the exact Indian prevalence remains unknown, a clustering of published cases suggests South Indian predominance. OBJECTIVE: To study the clinico-biochemical profile and therapeutic response of patients with PDB and briefly review the epidemiology of PDB from an Indian perspective. MATERIALS AND METHODS: Retrospective data was collected from the charts of patients who have been seen in endocrine out-patient clinics in Tamil Nadu over a 12-year period. Published literature on PDB from India was reviewed. RESULTS: A total of 66 patients (71% males) predominantly from Tamil Nadu were studied. The mean age at presentation was 67 ± 8 years. Polyostotic involvement was seen in 89% and familial occurrence of PDB in 5 patients. Symptoms at presentation mainly included bone pain (51%) and skeletal deformities (18%). Scalp vein sign (21%) and sensorineural hearing loss (64%) were also noted. Incidental PDB detection by raised serum alkaline phosphatase (SAP) levels was observed in 17% and by abnormal fluorodeoxyglucose-positron emission tomography (FDG-PET) scan in 6% of cases. Mean SAP at presentation was 606 ± 438 IU/L (Normal, 76-140). Major skeletal site involvement includes pelvis (62.1%) and spine (34.8%). Mean (range) follow-up of the cohort was 3.4 yrs (1-12 yrs). In all, 64 subjects received zoledronate and two received alendronate, and mean (SD) SAP at 1-year was 73 ± 42 IU/L. All but two showed remission at the end of 1 year. Two had pathological fractures and two had sarcomas. A review of epidemiology of PDB in Indian literature clearly showed a South Indian predilection for unclear reasons. CONCLUSION: In our cohort of PDB, male gender, polyostotic involvement, and hearing impairment were noted in more than two-thirds of patients and single-dose intravenous zoledronate was effective in normalizing SAP in almost all patients. PDB is intriguingly more common in South India and this needs more exploration.

Sertoli-Leydig cell tumour in a patient with non-classic congenital adrenal hyperplasia: an uncommon duo.

Polycystic ovary syndrome is the most common cause of hyperandrogenism in young females. Other causes are congenital adrenal hyperplasia (CAH), androgen-producing tumours and drugs. The severity and tempo of virilisation help in distinguishing the tumoural from non-tumoural causes. We report a rare case of non-classic CAH and androgen-producing ovarian tumour in the same patient, causing hyperandrogenism. A 15-year-old female patient presented with secondary amenorrhea, excessive facial hair growth and clitoromegaly for 6 months. Due to severe virilisation, tumoural aetiology was considered. Investigations showed marked elevation of testosterone and mild elevation of 17 hydroxy progesterone (17OHP). Imaging confirmed right ovarian tumour. Adrenocorticotropic hormone stimulated 17OHP, was elevated confirming the diagnosis of underlying non-classic CAH. Surgical removal of the tumour was followed by improvement in hyperandrogenism, but persistent elevation of 17OHP confirmed the underlying presence of non-classic CAH.

A Comparison of Clinicopathological Characteristics and Short-Term Outcome of Papillary Thyroid Carcinoma with Tall Cell Histology and Classic Papillary Thyroid Carcinoma: A Single-Institution Experience.

CONTEXT: Papillary thyroid carcinoma with tall cell histology (PTC-TCH) is an aggressive subtype in terms of clinicopathological features and outcome. Even 10% of tall cells can show aggressive features. AIMS: The aim of this study is to investigate the behavior of PTC-TCH, to compare with classic PTC (cPTC), and evaluate the short-term outcome. SETTINGS AND DESIGN: This is a retrospective analysis of patients with cPTC and those with TCH (PTC-TCH) seen from January 2010 to May 2017 seen in our Thyroid Cancer Clinic. MATERIALS AND METHODS: A total of 40 patients with TCH were compared with 352 cPTC and evaluated for age, gender, tumor size, presence of multifocality, capsular, vascular invasion, extrathyroid extension, and appearance of metastases. Short-term response to therapy was assessed using the 2015 American Thyroid Association guidelines. STATISTICAL ANALYSIS: P < 0.05 was considered statistically significant. All analyses were performed with SPSS software (Version 21.0, Chicago, IL, USA). RESULTS: PTC with TCH presented at a younger age, had larger tumors, and more extrathyroid extension. Seven out of 40 cases developed lung metastases, (17.5% vs. 4.5% in cPTC), within a year of diagnosis. CONCLUSION: PTC-TCH irrespective of percentage of tall cells showed aggressive features and early metastases. They should be recognized early as an aggressive subtype and treated intensively. Close follow-up must be instituted to look for metastases, especially to the lungs.

Unilateral adrenal mass as the sole initial manifestation of differentiated thyroid cancer.

Unilateral adrenal metastases without disseminated disease has rarely been reported in differentiated thyroid carcinoma (DTC). A 72-year-old female presented with vague abdominal discomfort and loss of appetite of 2 months duration. She had undergone left hemithyroidectomy for a benign thyroid nodule 18 years ago. A contrast CT of the abdomen showed a large left adrenal mass measuring 11×9 cm, suspicious of adrenocortical carcinoma. Hormonal evaluation was in keeping with a non-functional tumour. The patient underwent left adrenalectomy, histopathology of which revealed metastatic well-differentiated thyroid carcinoma. Ultrasound of thyroid done postoperatively showed a subcentimetric hypoechoic lesion with increased vascularity and microcalcifications in the right thyroid bed. Histopathology from a completion thyroidectomy specimen was consistent with follicular variant of papillary thyroid carcinoma. She was treated with high-dose radioiodine ablation therapy and has remained disease-free on follow-up for more than a year.

Perrault syndrome - a rare case report.

Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings have also been reported. Herein we report a case of sporadic Perrault syndrome in 18-year-old female who presented to our hospital with deaf mutism and primary amenorrhoea. On evaluation, the patient had hypergonadotropic hypogonadism, streak gonads and a normal karyotype (46 XX). Audiologic evaluation showed sensorineural deafness. The patient was started on hormone replacement therapy. She is on regular follow up. We present this case for its infrequent incidence and also to add to the ever expanding clinical spectrum of this disease.