RESUMO
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.
RESUMO
Background Hypothyroidism carries significant morbidity among the general population and is more common among patients with reduced Glomerular filtration Rate (GFR). Patients with reduced GFR have higher cardiovascular morbidity and mortality, which might be increased in the presence of hypothyroidism. A thyroid function test is not routinely included in predialysis workups. Aim The aim was to explore the prevalence of hypothyroidism among hemodialysis and peritoneal dialysis patients at a single large center in Al-Ahsa, Saudi Arabia. Methods A chart-review cross-sectional study was conducted at Al Jabr Kidney Center from February to May 2022. It included adult patients on hemodialysis or peritoneal dialysis. Data was extracted through a pre-structured data extraction sheet to avoid data collection errors. Extracted data included the patient's demographic data, causes of renal failure, and comorbidities besides laboratory investigations and thyroid profile. Results A total of 99 patients were included, with their ages ranging from 15 to 89 years, with a mean age of 51.3 ± 16.9 years old. The exact 76 (76.8%) patients were males. Exact five (5.1%) patients had high thyroid stimulating hormone (TSH), nine (9.1%) had low TSH, and 85 (85.9%) were euthyroid. There was no difference in the prevalence of hypothyroidism according to the type of dialysis (p=0.872). Dialysis adequacy was achieved in the majority of included patients based on Kt/V (80.5%) and URR (61.7%) regardless of thyroid status (p=0.115 and 0.653, respectively). The presence of hypertension and erythropoietin were more prevalent among patients with high TSH levels. Conclusion We concluded that hypothyroidism among dialysis patients was less common in our study compared to previously reported prevalence nationally and internationally. The prevalence of hypothyroidism was similar in both hemodialysis and peritoneal dialysis patients, and it did not affect dialysis adequacy. Hypertension and erythropoietin were more common among our dialysis patients with hypothyroidism. Screening for thyroid disorders among chronic disease patients (especially on dialysis) is essential to improve the quality of care.
