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Insulinoma may have an atypical presentation and it should be suspected in patients with neurological manifestations in spite of an atypical insulin and proinsulin levels associated with hypoglycemia. Fast test is an important tool to reach the diagnosis. [ABSTRACT FROM AUTHOR]

Key Clinical Message: The evaluation of first‐degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family. The evaluation of first‐degree family members is very important to detect additional cases of polyglandular autoimmune syndrome type 2. The genetic evaluation of human leukocyte antigen (HLA) may be useful in the study of this syndrome. This study is the first report of an HLA study of this syndrome in a Mexican family. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Etomidate is a very effective drug in severe Cushing's syndrome that is refractory to ketoconazol. Control of the serum cortisol levels in ectopic Cushing's syndrome can be obtained with infusion rates much lower than those used in anesthesia, without respiratory side effects. [ABSTRACT FROM AUTHOR]

Several letters to the editor and a reply are presented in response to the article "n-3 Fatty acids in patients with multiple cardiovascular risk factors," by The Risk and Prevention Study Collaborative Group in the May 9, 2013 issue.

X‐linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life. [ABSTRACT FROM AUTHOR]

The differential diagnosis between malignant and benign adrenal cortical tumors is challenging, and concurrent androgen and cortisol production should raise  suspicion of a malignant tumor. We present the case of a 36-year-old woman who exhibited pronounced hirsutism, clitoromegaly, and secondary amenorrhea. A contrast-enhanced computed tomography (CT) scan revealed a 35 × 27 mm right adrenal mass with unenhanced CT attenuation of 40 Hounsfield units (HUs). The mass exhibited absolute and relative washout rates of 50% and 28%, respectively, and was accompanied by a 25 × 20 mm adenopathy located in the hepatogastric space. Total testosterone was elevated by 247 ng/dL (8.56 nmol/L) (normal reference range, 10-75 ng/dL; 0.34-2.6 nmol/L). A 1-mg dexamethasone suppression test revealed an elevated serum morning cortisol concentration of 10.57 μg/dL (291.58 nmol/L) (reference range, <1.8 μg/dL; < 49.66 nmol/L). A fluorine-18 fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) scan revealed increased uptake in both the adrenal mass and the adenopathy. Subsequently, the patient underwent an open right adrenalectomy and lymphadenectomy. Histological examination revealed the presence of an adrenal adenoma with myelolipomatous metaplasia, as well as a positive polymerase chain reaction (PCR) for Mycobacterium tuberculosis in the adenopathy. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Diastrophic dysplasia (DTD) is caused by biallelic pathogenic variants in the SLC26A2 gene. We report the case of a 49‐year‐old female with DTD and esophageal stenosis. This broadens the phenotypic spectrum in adult patients with DTD and raises awareness of extra‐skeletal manifestations that could develop in later stages of life. [ABSTRACT FROM AUTHOR]

Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-old female Mexican patient with growth retardation and progressive bone deformity, whose laboratory studies showed 25-OH vitamin D deficiency, a normal serum calcium and an elevated intact parathyroid hormone level that remained high despite calcitriol, cholecalciferol, and calcium supplementation. 99mTc sestamibi gammagram showed findings suggestive of parathyroid hyperplasia. Bone histomorphometry showed an image consistent with hyperparathyroidism without findings of osteomalacia, so normocalcemic primary hyperparathyroidism was suspected and a subtotal parathyroidectomy was performed, with the patient developing postoperative hypoparathyroidism. When she arrived at our clinic at age 18 years, she showed calcium- and calcitriol-dependent hypocalcemia, with secondary hyperparathyroidism and low levels of 1,25(OH)2 vitamin D in the absence of a 25-OH vitamin D deficiency, reflecting a defect in 1α-hydroxylation. Molecular testing revealed compound heterozygous variants in CYP27B1 gene. This is the first reported case of an inherited disorder of vitamin D metabolism that was diagnosed and surgically treated as primary hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Osteoporosis (OP) is a chronic disease that affects older adults' quality of life, with fragility fractures (FF) being its most significant consequence due to their impact on healthcare systems in terms of morbidity, and economic and caregiving burden. FF are defined as fractures resulting from low-energy trauma, defined as falls from a standing height or less, and are usually considered osteoporotic (1). World demographic projections warn of a significant increase in adults aged 65 and older by 2050. These demographic changes mean that OP and FF will soon become an even greater challenge for healthcare systems, where prevention programs should be a priority. In Mexico, FF is also a public health challenge, with an initial reported incidence of nearly 2,000 cases per 100,000 population, and a projected seven-fold increase by 2050. Given this scenario, there is an urgent need for policy- and decision-makers to change their approach and formulate health policies that guarantee that people aged 65 and older are screened for fractures and have access to appropriate care. These policies should be part of a strategy to minimize FF and ensure active and healthy aging according to the WHO's Decade of Healthy Ageing. In this context, a group of Mexican experts representing different health organizations interested in the burden of OP and FF met to discuss possible strategies to reduce their burden for the next decade and summarize them in this Call to Action to promote public policies that prioritize an evidence-based approach to the prevention and treatment of OP and FF. [ABSTRACT FROM AUTHOR]

Objective. Pituitary adenomas can be classified as clinically functional or silent. Depending on the reviewed literature, these are the first or second place in frequency of the total pituitary adenomas. Even rarer is the presence of a functional gonadotropinoma since only very few case reports exist to date. The conversion of a clinically silent to functional pituitary adenoma is extraordinarily rare; the mechanisms that explain these phenomena are unknown or not fully understood. Methods. We report the case of a woman who initially had a nonfunctional gonadotropinoma and in the course of her medical condition showed biochemical changes in her hormonal pituitary profile compatible with a functional gonadotropinoma. Results. We considered that the patient had a functional gonadotropinoma due to the hyperestrogenemia in the context of secondary amenorrhea, resolving the hyperestrogenemia after almost complete resection of the tumor. Conclusion. It is necessary to point out from a clinical and/or biochemical point of view the change in functionality that a nonfunctional pituitary adenoma may have. In the case of our patient, the suspicion of this change in functionality became evident when we found an increase in the FSH/LH ratio and a progressive increase in serum estradiol concentrations when the patient had amenorrhea. [ABSTRACT FROM AUTHOR]

Hungry Bone Syndrome refers to the severe and prolonged hypocalcemia and hypophosphatemia, following parathyroidectomy in patients with hyperparathyroidism. We present the case of an eighteen-year-old woman with a four-year history of hyporexia, polydipsia, weight loss, growth retardation, and poor academic performance. The diagnostic work-up demonstrated primary hyperparathyroidism with hypercalcemia of 13.36 mg/dL, a PTH level of 2551 pg/mL, bone brown tumors, and microcalcifications within pancreas and kidneys. Neck ultrasonography revealed a parathyroid adenoma of 33 × 14 × 14 mm, also identified on 99Tc-sestamibi scan. Bone densitometry showed decreased Z-Score values (total lumbar Z-Score of −4.2). A right hemithyroidectomy and right lower parathyroidectomy were performed. Pathological examination showed an atypical parathyroid adenoma, of 3.8 g of weight and 2.8 cm in diameter. After surgery she developed hypocalcemia with tetany and QTc interval prolongation. The patient required 3 months of oral and intravenous calcium supplementation due to Hungry Bone Syndrome (HBS). After 42 months, she is still under oral calcium. Usually HBS lasts less than 12 months. Therefore we propose the term “Protracted HBS” in patients with particularly long recovery of 1 year. We present a literature review of the diagnosis, pathophysiology, and treatment of HBS. [ABSTRACT FROM AUTHOR]

Background: Controversy exists regarding the optimal dose of radioiodine (131I) therapy in autoimmune hyperthyroidism (i.e., Graves'' Disease). Methods: In order to evaluate the efficacy and safety of high dose 131I therapy in autoimmune hyperthyroidism, a retrospective review of patients who received 131I therapy for Graves'' disease from 1980 to 2000 in the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City was carried out. Results: The study population consisted of 596 autoimmune hyperthyroid patients with a mean age of 35 years. The mean follow-up period was 10.31 ± 2.37 years. Remission of hyperthyroidism occurred in 81.9%, persistent hyperthyroidism was recorded in 14.4% and recurrence in 3.7%. 131I doses of 5–9 mCi (185–333 MBq) and ≥20 mCi (≥740 MBq) were associated with remission rates of 65.5% and 87.7% respectively. Remission occurred earlier and more often with high doses of 131I. The high-dose group (20–30 mCi [740–1110 MBq]) had the lowest rate of persistence (9.7, 27.5 and 34.3%, for 20–30 [740–1110 MBq], 10–14 [370–518 MBq] and 5–9 [185–333 MBq] mCi, respectively p <0.05) and hypothyroidism occurred earlier in this group (p = 0.05). Conclusions: Remission of autoimmune hyperthyroidism is more likely with doses of 20–30 mCi (740–1110 MBq). [Copyright &y& Elsevier]