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João Felipe Queiroz Universidade de Fortaleza, Av. Washington Soares, Fortaleza, CE, Ceará, Brazil

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Soraya Lopes Sader Universidade de São Paulo, Av. Bandeirantes, Monte Alegre, Ribeirão Preto, SP, Brazil

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Carina Marques Barroso Hospital Infantil Albert Sabin, R. Tertuliano Sales, Fortaleza, CE, Ceará, Brazil

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Guido de Paula Colares Neto Centro Universitário São Camilo, Faculdade de Medicina. Avenida Nazaré, São Paulo, SP, Brasil

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Summary

We present an adolescent with X-linked hypophosphatemic rickets (XLH) with bone age advancement and its response to aromatase inhibitors (AIs). A male with XLH, confirmed with a deletion on the PHEX gene, received regular treatment since the first year of life with average growth velocity and height. He had bone age compatible with chronological age until 13 when he had a bone age advancement and a decrease in the predicted final height thought to be due to initiation of oral isotretinoin, which has been previously reported. Then, anastrozole was initiated and maintained concomitant to the rickets treatment for 2 years with bone age stabilization. He had no adverse effects or worsening of bone health markers. As a result, he maintained his height gain and improved his final height Z score compared with the predicted final height at initiating anastrozole. In conclusion, although AIs was a reasonable strategy to stabilize bone age and minimize height impairment, careful monitoring is mandatory to understand its benefits and effects on XLH patients.

Learning points

  • Although X-linked hypophosphatemic rickets patients have normal puberty, they can be affected by metabolic and environmental factors that may advance their bone age and impair the predicted final height, similar to the general population.

  • Isotretinoin may accelerate skeletal maturation during puberty in an adolescent with X-linked hypophosphatemic rickets.

  • Aromatase inhibitors showed to be a reasonable strategy to stabilize bone age and minimize height impairment in an adolescent with X-linked hypophosphatemic rickets.

Open access
Paula Condé Lamparelli Elias Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Marcelo Volpon Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo

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Giovana de Gobbi Azevedo Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Helio Machado Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo

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Gabriel Henrique Marques Gonçalves Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Antonio Carlos Santos Department of Radiology, Hematology and Oncology, Ribeirão Preto Medical School, University of São Paulo

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Livia M Mermejo Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Margaret de Castro Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Ayrton C Moreira Department of Internal Medicine, Division of Endocrinology, Ribeirão Preto Medical School, University of São Paulo

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Summary

Postoperative (PO) complications after transsphenoidal surgery (TSS) are rare when performed in pituitary referral centers. Partial hypopituitarism is more frequent and somewhat expected. Meningitis, cerebrospinal fluid leaks, and visual deficits are unusual. Cerebrovascular complications, including cerebral vasospasm are rare, usually under-appreciated and not mentioned to the patient prior to the surgery. This is a report of a 51-year-old male with a non-functioning pituitary macroadenoma presenting with partial hypopituitarism and visual field loss. The patient was submitted to an uneventful TSS. On the first PO day, he developed a left palpebral ptosis with unequal pupils and impaired consciousness (12 points on Glasgow Coma Scale). CT scan revealed a perimesencephalic subarachnoid hemorrhage (SAH) grade 1 according to the modified Fisher scale. High-dose dexamethasone (16 mg/day) was initiated and the patient became more alert (Glasgow 14). On the fifth PO day, due to progression of the neurological deficits (left III, IV, and VI cranial nerves palsy, ataxia, dysdiadochokinesia, right dysmetria, and dysarthria), a magnetic resonance angiography was obtained and revealed a recent mesencephalic infarct without evident vasospasm. Nevertheless, nimodipine 60 mg 4/4 h was initiated. No improvement was seen after 3 days of treatment. The patient was discharged and put on rehabilitation, returning to normal gait and balance after 7 months. This, therefore, is a case of an unexpected mesencephalic infarct probably due to vasospasm induced by minor SAH. Although exceptionally rare, informing the patient about this event prior to TSS is important due to its significant neurological impact. More data are needed considering preventive treatment with nimodipine as soon as SAH is detected after TSS and whether it would improve neurological outcomes.

Learning points

  • Whenever neurological deficits arise after transsphenoidal surgery (TSS), systemic infection, meningitis, electrolyte imbalance, and evident hemorrhage must be promptly investigated.

  • Although rare, cerebral vasospasm (CVS) after TSS is associated with high morbidity and high mortality rates.

  • Vigilance for vasospasm is necessary for patients undergoing TSS for pituitary adenoma, especially those with significant suprasellar extension.

  • Informing this event to the patient prior to TSS is essential due to its significant morbidity and mortality.

  • Post-TSS subarachnoid hemorrhage and hemiparesis may be important clues indicating CVS and infarction.

  • There is limited evidence in the literature regarding post-TSS CVS surveillance and treatment strategies which could have an impact on clinical decisions.

Open access
Livia Lugarinho Correa Department of Obesity, Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE), Rio de Janeiro, Brazil

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Priscila Alves Medeiros de Sousa Department of Obesity, Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE), Rio de Janeiro, Brazil

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Leticia Dinis Department of Obesity, Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE), Rio de Janeiro, Brazil

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Luana Barboza Carloto Department of Obesity, Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE), Rio de Janeiro, Brazil

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Maitane Nuñez-Garcia Pronokal® Group, Barcelona, Spain

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Ignacio Sajoux Pronokal® Group, Barcelona, Spain

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Sidney Senhorini Betaclínica-Centro de Diabetes de Maringá, Paraná, Brazil

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Summary

There is a close association between obesity and type 2 diabetes (T2D). The value of weight loss in the management of patients with T2D has long been known. Loss of 15% or more of body weight can have a disease-modifying effect in people with diabetes inducing remission in a large proportion of patients. Very low-carbohydrate ketogenic diets (VLCKDs) have been proposed as an appealing nutritional strategy for obesity management. The diet was shown to result in significant weight loss in the short, intermediate, and long terms and improvement in body composition parameters as well as glycemic and lipid profiles. The reported case is a 35-year-old man with obesity, dyslipidemia, and T2D for 5 years. Despite the use of five antidiabetic medications, including insulin, HbA1c was 10.1%. A VLCKD through a commercial multidisciplinary weight loss program (PnK method) was prescribed and all medications were discontinued. The method is based on high-biological-value protein preparations and has 5 steps, the first 3 steps (active stage) consist of a VLCKD (600–800 kcal/d) that is low in carbohydrates (<50 g daily from vegetables) and lipids. The amount of proteins ranged between 0.8 and 1.2 g/kg of ideal body weight. After only 3 months, the patient lost 20 kg with weight normalization and diabetes remission, and after 2 years of follow-up, the patient remained without the pathologies. Due to the rapid and significant weight loss, VLCKD emerges as a useful tool in T2D remission in patients with obesity.

Learning points

  • Obesity and type 2 diabetes (T2D) are conditions that share key pathophysiological mechanisms.

  • Loss of 15% or more of body weight can have a disease-modifying effect in people with T2D inducing remission in a large proportion of patients.

  • Diabetes remission should be defined as a return of HbA1c to <6.5% and which persists for at least 3 months in the absence of usual glucose-lowering pharmacotherapy.

  • The very low-carbohydrate ketogenic diet (VLCKD) is a nutritional approach that has significant beneficial effects on anthropometric and metabolic parameters.

  • Due to the rapid and significant weight loss, VLCKD emerges as a useful tool in T2D remission in patients with obesity.

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Vitor Scalone Netto Faculty of Medicine, Centro Universitário São Camilo, São Paulo, Brasil

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Gabriel Bellincanta Faculty of Medicine, Centro Universitário São Camilo, São Paulo, Brasil

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Guido de Paula Colares Neto Faculty of Medicine, Centro Universitário São Camilo, São Paulo, Brasil
Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil

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Nara Michelle de Araujo Evangelista Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil

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Carolina Costa Figueiredo Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil

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Patricia Salmona Department of Pediatric Genetics, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil

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Vânia de Fátima Tonetto-Fernandes Faculty of Medicine, Centro Universitário São Camilo, São Paulo, Brasil
Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, São Paulo, São Paulo, Brasil

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Summary

We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22−).

Learning points

  • Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy.

  • Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay.

  • Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus.

  • Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations.

  • Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence in situ hybridization can help diagnose genetic syndromes in patients with atypical evolution.

Open access
L M Mermejo Department of Internal Medicine, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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F G Carvalho Department of Internal Medicine, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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C A F Molina Department of Surgery and Anatomy, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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S Tucci Department of Surgery and Anatomy, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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V F Muglia Department of Radiology, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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J Elias Department of Radiology, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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P C L Elias Department of Internal Medicine, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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M Castro Department of Internal Medicine, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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A C Moreira Department of Internal Medicine, Hematology and Oncology, University of Sao Paulo Faculty of Medicine of Ribeirao Preto, Ribeirao Preto, São Paulo, Brazil

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Summary

Adrenocortical carcinoma (ACC) is a malignant disorder with rapid evolution and severe prognosis in adults and most produce cortisol and androgen. Estrogen-secreting adrenocortical carcinomas are extremely rare, especially in women, tend to be larger and have worse prognosis compared with other types of ACCs. We report the case of a 58-year-old woman who presented with bilateral breast enlargement and postmenopausal genital bleeding. She presented high estradiol (818 pg/mL – 25 times above upper normal limit for postmenopausal women) and testosterone (158 ng/dL – 2 times above upper normal limit) levels and no suppression of cortisol after overnight 1 mg dexamethasone test (12.5 µg/dL; normal reference value: < 1.8 µg/dL). The patient had no clinical features of cortisol excess. MRI showed a 12 cm tumor in the right adrenal. Clinical findings of bilateral breast enlargement and postmenopausal genital bleeding with no signs of hypercortisolism associated with hormonal findings of elevated estradiol and testosterone levels would indicate either an ovarian etiology or an adrenal etiology; however, in the context of plasma cortisol levels non-suppressive after dexamethasone test and the confirmation of an adrenal tumor by MRI, the diagnosis of an adrenal tumor with mixed hormonal secretion was made. The patient underwent an open right adrenalectomy and pathological examination revealed an ACC with a Weiss’ score of 6. Estradiol and testosterone levels decreased to normal range soon after surgery. She was put on mitotane treatment as adjuvant therapy, but due to side effects, we were unable to up-titrate the dose and she never achieved serum mitotane dosage above the desired 14 µg/mL. The patient remained in good health without any local recurrence or metastasis until 5 years after surgery, when increased levels of estradiol (81 pg/mL – 2.5 times above upper normal limit) and testosterone (170 ng/dL – 2.1 times above upper normal limit) were detected. MRI revealed a retroperitoneal nodule measuring 1.8 × 1.2 cm. The pathological finding confirmed the recurrence of the estrogen-secreting ACC with a Weiss’ score of 6. After the second procedure, patient achieved normal estrogen and androgen serum levels and since then she has been followed for 3 years. The overall survival was 8 years after the diagnosis. In conclusion, although extremely rare, a diagnosis of an estrogen-secreting ACC should be considered as an etiology in postmenopausal women presenting with bilateral breast enlargement, genital bleeding and increased pure or prevailing estrogen secretion.

Learning points:

  • Estrogen-secreting adrenocortical carcinomas are exceedingly rare in adults and account for 1−2% of adrenocortical carcinomas.

  • Estrogen-secreting adrenal tumors can be present in females, but are even more rare, we found few cases described in the literature. In women, they present with precocious puberty or postmenopausal bleeding.

  • Feminization in the context of an adrenal tumor is considered almost pathognomonic of malignancy. Feminizing ACCs tend to be larger and with worse prognosis compared with nonfeminizing ACCs.

Open access
Davi da Silva Barbirato Wolfgang C. Pfeiffer Laboratory of Environmental Biogeochemistry, Federal University of Rondônia (UNIR), Rio de Janeiro, Brazil

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Mariana Fampa Fogacci Wolfgang C. Pfeiffer Laboratory of Environmental Biogeochemistry, Federal University of Rondônia (UNIR), Rio de Janeiro, Brazil

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Mariana Arruda Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

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Monique Oliveira Rodrigues Division of Graduate Periodontics, Department of Dental Clinic, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
Faculdades São José, Rio de Janeiro, Brazil

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Leonardo Vieira Neto Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil

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Summary

Osteopetrosis (OP) comprehends a rare group of conditions, presenting on radiographs increased bone density, deriving from irregularities in osteoclast differentiation or function. In the autosomal dominant osteopetrosis (ADO), some patients stay asymptomatic for some time, or only develop mild symptoms. The dental surgeon is often the first to presuppose the disease during routine imaging examinations, referring the patient to a specialized medical group. Furthermore, osteomyelitis is one of the major OP complications, and should be refrained through frequent dental monitoring. Signals of cortical interruption, sclerotic sequestra or periosteal new bone formation, should be looked for in these patients. Their dental management is complex and procedures encompassing bone tissue, such as implant procedures, tissue regenerations, tooth extractions, maxillofacial surgeries and orthodontic treatments, when elected, should be avoided. This case report describes a case of ADO with a diagnosis of moderate generalized chronic periodontitis, not statistically related to plaque index. This is the first case to describe such a condition, in which the systemic component and the altered bone metabolism seem to be related to the loss of periodontal apparatus, independent of the biofilm. Concerning prevention, we can reinforce the need for frequent dental monitoring to avoid further interventions in those cases.

Learning points:

  • This paper reports a case in which the systemic component and the altered bone metabolism seem to have been related to the loss of periodontal attachment apparatus, independent of the biofilm.

  • The periodontal damage observed in the OP patient was not related to the dental plaque, which leads us to suggest that the cases of periodontitis in OP patients should be diagnosed as periodontitis as a manifestation of systemic diseases.

  • The periodontitis prevention should be longed for in OP patients thus, we propose that doctors responsible for patients with OP refer them to a dental service as soon as possible and that dentists should be aware of the preventive dentistry value as well as the most appropriate dental management for those cases.

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Marcelo Maia Pinheiro Pharmaceutical Assistance Center of the State of Mato Grosso, Cuiaba, Brazil

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Felipe Moura Maia Pinheiro Faculdade de Medicina da Universidade de Cuiabá-UNIC, Cuiaba, Brazil

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Margareth Afonso Torres Laboratório Clinico do Hospital Israelita Albert Eistein, São Paulo, SP, Brazil

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Summary

Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by autoimmune destruction of pancreatic beta cells and inadequate insulin production. Remission criteria in T1DM take into account serum levels of C-peptide and glycosylated hemoglobin, as well as the dose of insulin administered to the patient. However, remission of T1DM lasting longer than 1 year is rare. We describe here the cases of two young women who presented with positive glutamic acid decarboxylase (GAD) antibody and classic clinical manifestations of T1DM. Both patients had a prior history of Hashimoto’s thyroiditis. They were initially treated with a basal-bolus regimen of insulin (glargine and lispro/glulisine). Once their blood glucose levels were controlled, they were started on oral sitagliptin 100 mg and vitamin D3 5000 IU daily. After this therapy, both patients achieved clinical diabetes remission for 4 years, along with a decrease in anti-GAD antibody levels. These benefits were probably associated with immunological effects of these medications. Inhibition of dipeptidyl peptidase 4 (DPP-4) in animal models deregulates Th1 immune response, increases secretion of Th2 cytokines, activates CD4+CD25+FoxP3+ regulatory T-cells and prevents IL-17 production. Vitamin D3 also activates CD4+CD25+FoxP3+ regulatory T-cells, and these medications combined can improve the immune response in patients with new-onset T1DM and probably promote sustained clinical remission.

Learning points:

  • The use of sitagliptin and vitamin D3 in patients with new-onset type 1 diabetes mellitus (T1DM) may help decrease the daily insulin requirement by delaying beta cell loss and improving endogenous insulin production.

  • The use of sitagliptin and vitamin D3 in new-onset T1DM could help regulate the imbalance between Th17 and Treg cells.

  • Age 14 years or above, absence of ketoacidosis and positive C-peptide levels in patients with T1DM are good criteria to predict prolonged T1DM remission.

  • The determination of anti-GAD antibodies and C-peptide levels could be helpful in the follow-up of patients in use of sitagliptin and vitamin D3, which could be associated with prolonged T1DM clinical remission.

Open access
Katia Regina Marchetti Department of General Medicine

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Maria Adelaide Albergaria Pereira Department of Endocrinology, Clinics Hospital, University of Sao Paulo School of Medicine, Sao Paulo, SP, Brazil

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Arnaldo Lichtenstein Department of General Medicine

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Edison Ferreira Paiva Department of General Medicine

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Summary

Adrenacarcinomas are rare, and hypoglycemic syndrome resulting from the secretion of insulin-like growth factor II (IGF-II) by these tumors have been described infrequently. This study describes the case of a young woman with severe persistent hypoglycemia and a large adrenal tumor and discusses the physiopathological mechanisms involved in hypoglycemia. The case is described as a 21-year-old woman who presented with 8 months of general symptoms and, in the preceding 3 months, with episodes of mental confusion and visual blurring secondary to hypoglycemia. A functional assessment of the adrenal cortex revealed ACTH-independent hypercortisolism and hyperandrogenism. Hypoglycemia, hypoinsulinemia, low C-peptide and no ketones were also detected. An evaluation of the GH–IGF axis revealed GH blockade (0.03; reference: up to 4.4 ng/mL), greatly reduced IGF-I levels (9.0 ng/mL; reference: 180–780 ng/mL), slightly reduced IGF-II levels (197 ng/mL; reference: 267–616 ng/mL) and an elevated IGF-II/IGF-I ratio (21.9; reference: ~3). CT scan revealed a large expansive mass in the right adrenal gland and pulmonary and liver metastases. During hospitalization, the patient experienced frequent difficult-to-control hypoglycemia and hypokalemia episodes. Octreotide was ineffective in controlling hypoglycemia. Due to unresectability, chemotherapy was tried, but after 3 months, the patient’s condition worsened and progressed to death. In conclusion, our patient presented with a functional adrenal cortical carcinoma, with hyperandrogenism associated with hypoinsulinemic hypoglycemia and blockage of the GH–IGF-I axis. Patient’s data suggested a diagnosis of hypoglycemia induced by an IGF-II or a large IGF-II-producing tumor (low levels of GH, greatly decreased IGF-I, slightly decreased IGF-II and an elevated IGF-II/IGF-I ratio).

Learning points:

  • Hypoglycemyndrome resulting from the secretion of insulin-like growth factor II (IGF-II) by adrenal tumors is a rare condition.

  • Hypoinsulinemic hypoglycemia associated with hyperandrogenism and blockage of the GH–IGF-I axis suggests hypoglycemia induced by an IGF-II or a large IGF-II-producing tumor.

  • Hypoglycemia in cases of NICTH should be treated with glucocorticoids, glucagon, somatostatin analogs and hGH.

Open access
Ana Marina Moreira Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Brazil

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Poli Mara Spritzer Gynecological Endocrinology Unit, Division of Endocrinology, Hospital de Clinicas de Porto Alegre, Brazil
Laboratory of Molecular Endocrinology, Department of Physiology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil

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Summary

Primary ovarian insufficiency (POI) is the condition of intermittent or permanent gonadal insufficiency that occurs in women before the age of 40. We describe three cases of POI referred to the outpatient endocrinology clinic of a university hospital. The three patients met diagnostic criteria for POI and were managed by specific approaches tailored to individualized goals. In the first case, the main concern was fertility and the reproductive prognosis. The second patient was a carrier of a common genetic cause of POI: premutation of the FMR1 gene. The third case was a patient diagnosed with a POI and established osteoporosis, a common complication of estrogen deprivation. This study reports the treatment and follow-up of these cases, with an emphasis on relevant aspects of individualized management, alongside a brief literature review.

Learning points

  • A diagnosis of POI should be considered in patients presenting with amenorrhea or irregular menses and high serum follicle-stimulating hormone (FSH) levels before age 40 years.

  • Patients with POI without an established cause, especially in familial cases, should be tested for FMR1 mutations.

  • Estrogen/progestin replacement therapy is indicated since diagnosis until at least the estimated age of menopause, and is the cornerstone for maintaining the good health of breast and urogenital tract and for primary or secondary osteoporosis prevention in POI.

  • Fertility should be managed through an individualized approach based on patient possibilities, such as egg or embryo donation and ovarian cryopreservation; pregnancy can occur spontaneously in a minority of cases.

  • Women with POI should be carefully monitored for cardiovascular risk factors.

Open access
Renata Lange Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Caoê Von Linsingen Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Fernanda Mata Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Aline Barbosa Moraes Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Mariana Arruda Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Leonardo Vieira Neto Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil
Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Summary

Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yet been reported. A 20-year-old female patient had facial dysmorphism, short stature, psychomotor developmental delays, a ventricular septal defect, and thrombocytopenia. Karyotyping demonstrated RC11 (46,XX,r(11)(p15q25)). This patient presented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the long arm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed by severe hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2 diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovary syndrome. Endocrine abnormalities are rare in patients with RC11, and the association of RC11 with precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM has not been reported previously. We speculate that gene(s) located on chromosome 11 might be involved in the pathogenesis of these conditions. Despite the rarity of RCs, studies to correlate the genes located on the chromosomes with the phenotypes observed could lead to major advances in the understanding and treatment of more prevalent diseases.

Learning points

  • We hypothesize that the endocrine features of precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM might be associated with 11q-syndrome.

  • A karyotype study should be performed in patients with short stature and facial dysmorphism.

  • Early diagnosis and adequate management of these endocrine abnormalities are essential to improve the quality of life of the patient and to prevent other chronic diseases, such as diabetes and its complications.

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