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DICER1 syndrome is a rare autosomal dominant syndrome resulting in benign and malignant tumors in various organs with tumors in endocrine organs (pituitary, thyroid, adrenal, ovaries, and pancreas). Here we present a rare case of 18-year-old twin sisters with DICER1 syndrome who presented at the age of 15 years with hirsutism, deepening of the voice, and amenorrhea. They were diagnosed with a Sertoli-Leydig cell tumor of the ovary and underwent unilateral oophorectomy, with no evidence of recurrence or metastasis during follow-up. Genetic analysis showed the same germline DICER1 mutation in both cases. They also had large multinodular goiters (nodule size ranging from 1.0 to 2.3 cm) nodules were increasing in size. Fine needle aspiration cytology (FNAC) of thyroid nodules for both the sisters showed atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS), and they both underwent total thyroidectomy revealing papillary thyroid carcinoma. No pituitary lesion was observed in the brain magnetic resonance imaging (MRI) of either of them. A chest CT scan showed bilateral sub-pleural benign-looking nodules in both patients. The twin sisters developed some features, such as Sertoli-Leydig cell tumor, multinodular goiter, and papillary thyroid carcinoma, and had positive genetic tests for DICER1 germline mutation. The father and paternal grandfather had a family history of papillary thyroid carcinoma. Both patients require active surveillance due to the increased risk of developing tumors in multiple organs associated with this disease., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Al Hussaini et al.)

Amyloid goiter is described as an accumulation of amyloid, an amorphous proteinaceous material, in the thyroid gland. The deposition of amyloid is relatively common in the thyroid gland. However, a significant clinical enlargement due to amyloid accumulation and fat deposition in the thyroid stroma resulting in diffuse goiter leading to compressive symptoms is a rare phenomenon. In this report, we describe a rare case of amyloid goiter with adipose metaplasia in a 38-year-old woman with a history of pulmonary tuberculosis who presented to the outpatient department with complaints of heartburn, abdominal discomfort, and hoarseness of voice. Incidentally patient had diffused multinodular neck swelling. Preliminary blood investigations were normal. The contrast-enhanced computed tomography neck showed multiple non-enhancing lesions and a diffusely enlarged thyroid gland, causing a mass effect on the oropharynx posteriorly and minimally on the trachea. Fine needle aspiration cytology thyroid revealed thyroiditis. The patient underwent a total thyroidectomy, and histopathological examination of the specimen showed an extracellular eosinophilic amorphous substance that was positive for Congo red and showed apple-green birefringence under polarized light, and large areas of adipose metaplasia were noted, and a diagnosis was made. The amyloid involvement can result from localized primary deposition or secondary to chronic inflammatory disease. The prevalence of amyloid goiter in developed countries is due to primary amyloidosis, and in developing countries is due to secondary amyloidosis. Patients with a history of pulmonary tuberculosis commonly present with renal amyloidosis as its complication. Patients with an enlarged thyroid gland and a history of chronic inflammatory conditions or plasma cell dyscrasias should be evaluated with extreme suspicion. The correlation of tuberculosis with the subsequent development of amyloid goiter highlights the need for research in this area., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Ahmed Khan et al.)

Substernal goiter is overall an uncommon disease. Obstructive symptoms can occasionally develop in older patients with a longstanding history of goiter. Here, we describe a rare case of pulmonary embolism presenting as a complication of benign substernal goiter in a young patient without preceding recognized thyroid disease. After three separate biopsies, surgical resection was eventually performed, with pathology confirming the diagnosis of multinodular thyroid with cystic changes. Four months after the surgery, a CT angiogram of the chest was performed, which showed resolution of bilateral pulmonary emboli., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Liu et al.)

Posterior mediastinal goiter is not a common cause of dysphagia, and symptoms can simulate esophageal malignancy. This case report highlights two critical clinical aspects. First, the patient's symptoms of gradually worsening dysphagia to solids and liquids, odynophagia, and hoarseness of voice secondary to retrosternal thyroid nodule extension can simulate esophageal malignancy. Second, a barium swallow study can effectively rule out esophageal pathology even though more advanced studies, like High-resolution computed tomography (HRCT), are inconclusive. We present a unique case of isolated posterior mediastinal exophytic thyroid nodule simulating the symptoms of esophageal pathology., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Riaz et al.)

Primary amenorrhea is a serious medical condition. A thorough clinical assessment is necessary for a timely and correct diagnosis and management of this ailment to prevent long-term health and social problems. Turner's syndrome is considered one of the important causes of primary amenorrhea, with an incidence of one in 2,500 to one in 3,000 live-born girls. In this report, we present an interesting case involving multinodular goiter, hypothyroidism, and primary amenorrhea. A 24-year-old woman with a history of multinodular goiter and hypothyroidism attended an endocrine clinic with fine-needle aspiration cytology (FNAC) report of her bilateral thyroid nodules, which showed Bethesda category IV. She had a history of learning difficulties. During detailed history-taking, the patient also complained of primary amenorrhea. Clinical examination showed a lack of secondary sexual characters. Biochemical, imaging, and cytogenetic investigations were suggestive of absent ovaries and fallopian tubes, streaked uterus, hypergonadotropic hypogonadism, and X0 karyotyping. The learning objectives of this case report are as follows: firstly, in countries with a lack of awareness and limited health resources, patients may present with one of the manifestations of Turner's syndrome. Clinicians from all specialties should be aware of the clinical features of this relatively rare entity and should try to make the most of incidental clinical findings. Secondly, clinicians should be more vigilant and thorough in their clinical assessment of patients with learning difficulties to minimize the chances of missing a clinical diagnosis., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2021, Alvi et al.)

The presentation of atherosclerosis with concomitant hyperthyroidism is not uncommon. Hyperthyroidism predisposes to worse cardiovascular pathologies like systolic hypertension, atrial fibrillation, and hypercoagulability. Drug-eluting stents, on the other hand, have emerged as a miracle treatment choice for patients having atherogenic conditions. They have the highest success rates when it comes to minimizing in-stent restenosis (ISR) during short-term follow-up. There is scarce literature that assesses the correlation of multinodular goiter (MNG) to ISR, especially in Pakistan, and thus any probable association between the two is left untouched. We report a case of a 57-year-old female who is a known hyperthyroid with a massive MNG, presenting with worsening chest pain. She had undergone sirolimus-eluting stent (SES) implantation in left anterior descending artery (LAD) six months back. Cardiac catheterization confirmed restenosis of the SES in the LAD, along with the occlusion of left circumflex and right coronary artery, accompanied by grade I diastolic dysfunction and mild aortic regurgitation on echocardiography., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2019, Shabbir et al.)