ACTA ENDOCRINOLOGICA (BUC)

Resistant Graves’ disease in pregnancy is a rare entity. The clinical situation poses immense difficulty to the treating endocrinologist and obstetrician in optimizing maternal and fetal heath. No guidelines till date are available to manage resistant Grave’s disease in pregnancy. We hereby present a case series on resistant Grave’s in pregnancy and our institute experience in managing this rare and challenging clinical entity. Definitive management is total thyroidectomy in second trimester. Higher doses of ATDs and betablockers may have its fetopathic effects. Use of immunosuppressive agents are not advised in pregnancy to suppress the TRAb titre. Steroid therapy may be used as an adjuvant to permissible doses of anti-thyroid medications to curb the thyrotoxicosis in pregnancy. An alternate fetal friendly ATD is not available to add on to existing ATDs. TRAb estimation in maternal blood is mandatory. Mothers need frequent monitoring of cardiac status and need to avoid factors that can cause cardiac decompensation. Fetal surveillance includes growth monitoring and biophysical profile at nearby intervals, helps to ascertain the effects of excess thyroid hormones, TRAb and anti-thyroid drugs. Immediate neonatal cord blood screening for thyroid abnormalities is necessary. Maternal and fetal management in such a clinical situation is multidisciplinary.

Context and objective. Somatostatin analogues and cinacalcet have been suggested to have some role in managing hypophosphatemia. This report highlights challenges in managing surgically incurable tumor induced osteomalacia (TIO) with somatostatin analogues and cinacalcet. Patient and methods. A twenty-two year old patient with severe osteomalacia was diagnosed to have TIO due to left hemipelvis tumor (June 2013). Partial surgical removal of tumor (due to its proximity to neurovascular bundles), led to transient remission for 6 weeks. Clinical worsening in spite of maximum tolerable phosphate and calcitriol dose led to trial of octreotide. Acute improvement in phosphate following subcutaneous octreotide 100 mcg was the basis for use of long acting depot octreotide, which was associated with maximal improvement for 4 months, followed by reduced efficacy. Repeated MRI revealed an increase in residual tumor size. Reevaluation revealed very a high parathyroid hormone. Cinacalcet titrated to 90 mg/day induced hypoparathyroidism, improved hypophosphatemia but caused symptomatic hypocalcemia. Cinacalcet at lower doses (30mg/day), though well tolerated, was less effective in improving hypophosphatemia. There was a near 10-fold reduction (2406 to 246RU/ml) in C-terminal FGF-23 levels with cinacalcet. Reduction in phosphate and calcitriol requirements with cinacalcet may contribute to decreased FGF-23. There was no decrease in tumor size. Conclusion. Octreotide and cinacalcet are effective in controlling hypophosphatemia over short periods. Progressive nature of TIO leading to an increased disease severity, tachyphylaxis may explain decreased efficacy of octreotide, higher cinacalcet requirement, poor tolerability, thus limiting their role in long-term management of TIO.

Intrasellar plasmacytoma is a rare pituitary tumor, which originates from monoclonal plasma cells in a single lesion. Knowledge of its features comes from case reports only. Here, we present an interesting case of a 77-year-old woman with a presumptive diagnosis of nonfunctioning pituitary adenoma, as based on both clinical and radiological examinations. Following endoscopic endonasal transsphenoidal surgery, the definitive diagnosis of intrasellar plasmacytoma was made by immunohistochemical analysis of the sellar mass. Intrasellar plasmacytoma is rare, but it should be evaluated in the differential diagnosis of a pituitary mass due to its different therapeutic approach and prognosis, since it can frequently progress to multiple myeloma.

Evans syndrome is a rare combination of autoimmune hemolytic anemia and immune thrombocytopenia. Evans syndrome in cases of Graves’ disease is extremely rare. The coexistence of these autoimmune diseases suggests that they may share a common pathogenic pathway. The case here presented is of a 36-year old female patient who was admitted for anemia and thrombocytopenia and was diagnosed with Evans syndrome associated with Graves’ disease, and was then treated with methimazole and methylprednisolone (MPSL). During follow-up, MPSL was discontinued gradually over the course of two months. Interestingly, while Evans syndrome is characterized by frequent relapses, this patient has been in remission of Evans syndrome for approximately 1 year without MPSL therapy. The remission of Evans syndrome associated with Graves’ disease in the absence of immunosuppressive therapy suggests that these 2 diseases have a common pathogenetic mechanism.

Anorchia is a syndrome characterized by unilateral or bilateral absence of testicular tissue.\r\nAt puberty, growth and development are normal but secondary sexual development fails to\r\noccur if anorchia is bilateral.\r\nWe present the case of a 21 year-old male with a late diagnosis of bilateral anorchia. The\r\ndiagnosis was suggested by a bilateral empty scrotum, in a patient with male phenotype and\r\npoor secondary sexual development and established by karyotype analysis, hormonal profile\r\nand surgical exploration. The lack of testosterone response to hCG stimulation is the hormonal\r\nhallmark of bilateral congenital anorchia. In the absence of any information about germinal cell\r\npresence, bilateral excision of the testicular nubbins, implantation of testicular prostheses and\r\nhormonal replacement therapy were indicated.

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Medullary thyroid carcinoma is a neuroendocrine tumour of the parafollicular C cells of the thyroid gland. It is an aggressive tumor that can be cured only by complete resection of the thyroid tumour and any local and regional metastases. Thus, the discovery of novel diagnostic and prognostic markers is very important for early diagnosis and correct management, in order for the survival rates to rise. New research has emphasized the potential role of various genes, serum and immunohistochemical markers, as well as potential targets for therapeutic agents. The calcium stimulated calcitonin test has been recently reintroduced in clinical practice, and current medullary thyroid carcinoma guidelines encourage laboratories to set their own criteria defining reference ranges for elevated serum basal and stimulated calcitonin levels.

Diabetes Mellitus is a huge syndrome which can be detected from the first day of life until the last year of life of a centenarian. In the current classification of diabetes among the so-called “idiopathic phenotypes”, apart Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D) has been included provisionally term “Latent Autoimmune Diabetes in Adults” (LADA). This has unclear characterization regarding the age at onset, the presence of anti-β-cell antibodies and the level of insulin secretory function, in conformity with C-peptide levels. According to several recent publications, there are no specific biochemical or genetic markers for Latent Autoimmune Diabetes in Adults (LADA), but only a gradual transition from T1D to T2D. In addition, the word “latent” in the construction of “LADA” term is inaccurate because in this phenotype nothing is latent: both the autoimmunity and diabetes are present and are even parts of the diagnosis. So that, the best term should be what in reality this subphenotype is: an Intermediary Diabetes Mellitus (IDM). Some recent genetic data strongly support this designation.

Objective. TSH-secreting pituitary adenomas (TSH-omas) are very rare disorders. This report describes the diagnosis and treatment of a thyroid-stimulating hormonesecreting ectopic pituitary adenoma in the nasopharyngeal region. Subjects and Methods. We report a 37-year-old male patient with thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region. Results. A patient suffering from sweating, palpitations, dizziness and abnormality in thyroid tests was referred to our clinic. Thyroid function tests showed high basal levels of free thyroxine (FT4), free tri-iodothyronine (FT3), and serum TSH. TRH stimulation test results indicated blunted response. Scintigraphy showed increased radionuclide uptake (iodine-123), and a thyroid ultrasound scan revealed diffuse enlargement of the thyroid gland. A pituitary MRI indicated a normal pituitary. However, MRI showed a mass in the nasopharynx that was confirmed with endoscopy. Endoscopic total endonasal resection was done and the mass was removed. The pathology reported a TSHsecreting pituitary adenoma. Conclusion. In this report, an identified case of thyroid-stimulating hormone-secreting ectopic pituitary adenoma in nasopharyngeal region is reported and it is the only tenth case in the literature indicated in the nasopharyngeal region. Ectopic TSH-omas should be considered during inappropriate secretion of TSH as a candidate cause to enable correct diagnosis and improve the treatment of patients.

Prader-Willi syndrome (PWS) is commonly caused by the absence of the paternal contribution for imprinted genes in chromosomes 15q11.\r\nWe present a case of a 16 years-old girl with hypotonia, feeding difficulties, failure to thrive and strabismus during infancy followed by hyperphagia, early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of individuals with PWS. Routine Giemsa banded chromosomes were obtained from peripheral blood lymphocytes. Karyotype analysis showed a mosaic triple X (46,XX/47,XXX). Using\r\nmethylation studies of the PWS critical region (SNRPN locus) and by polymorphic microsatellite analysis, the existence of microdeletion of the critical area on paternal\r\nchromosome 15 was shown in white blood cells. Mosaicism for triple-X was observed in other three reported patients with PWS but in all of these reported cases an uniparental maternal heterodisomy for chromosome 15 was described. The X chromosome mosaicism in our case is presumed to have arisen postzygotically. The findings in our patient provide evidence that these two chromosomal anomalies are not related and had occurred together coincidentally. Genetic counseling for this family should consider these two conditions separately and provide separate recurrence\r\nrisks for each.