Cutis verticis gyrata: a cutaneous finding in acromegaly.

Acromegaly is a rare disease characterized by changes in the bone and soft tissue systems, induced by excess growth hormone and insulin-like growth factor type 1. Among the skin lesions associated with acromegaly is cutis verticis gyrata, an hypertrophic, and coarse folding of the skin of the scalp, an association of uncommon incidence and unknown prevalence. This case report describes the case of a patient diagnosed with acromegaly at age 60 with previously unidentified cutis verticis gyrata. This report aims to review the literature on cutis verticis gyrata and its unusual association with acromegaly.

Cutis verticis gyrata: a cutaneous finding in acromegaly

Abstract Acromegaly is a rare disease characterized by changes in the bone and soft tissue systems, induced by excess growth hormone and insulin-like growth factor type 1. Among the skin lesions associated with acromegaly is cutis verticis gyrata, an hypertrophic, and coarse folding of the skin of the scalp, an association of uncommon incidence and unknown prevalence. This case report describes the case of a patient diagnosed with acromegaly at age 60 with previously unidentified cutis verticis gyrata. This report aims to review the literature on cutis verticis gyrata and its unusual association with acromegaly.

Lipid profile and response to statin therapy in patients with hypopituitarism

ABSTRACT Objective: Dyslipidemia is prevalent among patients with hypopituitarism, especially in those with growth hormone (GH) deficiency. This study aimed to evaluate the response to statin therapy among adult patients with dyslipidemia and hypopituitarism. Subjects and methods: A total of 113 patients with hypopituitarism following up at a neuroendocrinology unit were evaluated for serum lipid levels. Dyslipidemia was diagnosed in 72 (63.7%) of these patients. A control group included 57 patients with dyslipidemia and normal pituitary function. The distribution of gender, age, weight, and dyslipidemia type was well balanced across both groups, and all participants were treated with simvastatin at doses adjusted to obtain normal lipid levels. Results: Patients with hypopituitarism and dyslipidemia presented deficiency of TSH (69%), gonadotropins (69%), ACTH (64%), and GH (55%) and had a similar number of deficient pituitary axes compared with patients with hypopituitarism but without dyslipidemia. All patients with dyslipidemia (with and without hypopituitarism) had lipid levels well controlled with doses of simvastatin ranging from 20-40 mg/day. The mean daily dose of simvastatin was not significantly different between patients with and without hypopituitarism (26.7 versus 23.5 mg, p = 0.10). Similarly, no significant variation in simvastatin dose was observed between patients with different causes of hypopituitarism, presence or absence of GH deficiency, number of deficient pituitary axes, prior pituitary radiation therapy or not, and presence or absence of obesity. Conclusions: Patients with GH deficiency without GH replacement showed good response to simvastatin at a mean dose equivalent to that used in individuals with dyslipidemia and normal pituitary function.

Resolution of headache after reduction of prolactin levels in hyperprolactinemic patients.

METHODS: Prolactin (PRL) secreting adenomas are associated with high incidence of headache. The role of hyperprolactinemia in the headache context is not clear, nor is the effect of its treatment on headache. The present longitudinal study evaluated hyperprolactinemic patients (69), in terms of presence and characteristics of headache before and after hyperprolactinemia treatment. RESULTS: Headache was reported by 45 (65.2%) patients, independent of the etiology of hyperprolactinemia. The migraine phenotype was the most prevalent (66.6%). Medications used in the treatment of headache not changed during the study. The first line of treatment of hyperprolactinemia was dopaminergic agonists. In the last reevaluation, PRL level under treatment was within the reference range in 54.7% of the cases, and it was observed complete or partial resolution of the headache in 75% of the cases. The median PRL at this time in patients with complete headache resolution was 17 ng/mL, in those who reported partial recovery was 21 ng/mL, and in those in whom the headache did not change was 66 ng/mL, with a significant difference between the group with complete headache resolution vs. the group with unchanged headache (p=0.022). In the cases with complete headache resolution, the median fall on PRL levels was 89% and in those cases with partial headache resolution 86%, both significantly different (p<0.001) from the fall in the cases with an unchanged headache. CONCLUSION: Data allow us to conclude that, in this series, in the majority of cases the reduction in the level of PRL was followe3d by cessation or relief of the pain.

Resolution of headache after reduction of prolactin levels in hyperprolactinemic patients / Resolução de cefaleia após redução dos níveis de prolactina em pacientes com hiperprolactinemia

Abstract Prolactin (PRL) secreting adenomas are associated with high incidence of headache. The role of hyperprolactinemia in the headache context is not clear, nor is the effect of its treatment on headache. Methods: The present longitudinal study evaluated hyperprolactinemic patients (69), in terms of presence and characteristics of headache before and after hyperprolactinemia treatment. Results: Headache was reported by 45 (65.2%) patients, independent of the etiology of hyperprolactinemia. The migraine phenotype was the most prevalent (66.6%). Medications used in the treatment of headache not changed during the study. The first line of treatment of hyperprolactinemia was dopaminergic agonists. In the last reevaluation, PRL level under treatment was within the reference range in 54.7% of the cases, and it was observed complete or partial resolution of the headache in 75% of the cases. The median PRL at this time in patients with complete headache resolution was 17 ng/mL, in those who reported partial recovery was 21 ng/mL, and in those in whom the headache did not change was 66 ng/mL, with a significant difference between the group with complete headache resolution vs. the group with unchanged headache (p=0.022). In the cases with complete headache resolution, the median fall on PRL levels was 89% and in those cases with partial headache resolution 86%, both significantly different (p<0.001) from the fall in the cases with an unchanged headache. Conclusion: Data allow us to conclude that, in this series, in the majority of cases the reduction in the level of PRL was followe3d by cessation or relief of the pain.

Resumo Os adenomas secretores de prolactina (PRL) estão associados à alta incidência de cefaleia. O papel da hiperprolactinemia no contexto da dor de cabeça não está claro, nem o efeito da redução dos níveis da PRL na cefaleia. Métodos: O presente estudo longitudinal avaliou pacientes hiperprolactinêmicos (69), quanto à presença e às características da cefaleia antes e após o tratamento da hiperprolactinemia. Resultados: Cefaleia foi relatada por 45 (65,2%) pacientes, independente da etiologia da hiperprolactinemia. O fenótipo de enxaqueca foi mais prevalente (66,6%). Os medicamentos usados ​​no tratamento da cefaleia não foram alterados durante o estudo. A primeira linha de tratamento da hiperprolactinemia foram os agonistas dopaminérgicos. Na última reavaliação, o nível de PRL sob tratamento estava dentro da faixa de referência em 54,7% dos casos, observando-se resolução completa ou parcial da cefaleia em 75% dos casos. A mediana de PRL neste momento em pacientes com resolução completa da cefaleia foi de 17 ng/mL, nos que relataram recuperação parcial foi de 21 ng/mL, e naqueles em que a cefaleia não se alterou foi de 66 ng/mL, com uma diferença significativa entre o grupo com resolução completa da cefaleia versus o grupo com cefaleia inalterada (p=0,022). Nos casos com resolução completa da cefaleia, a queda mediana nos níveis de PRL foi de 89% e nos casos com resolução parcial de cefaleia de 86%, ambos significativamente diferentes (p<0,001) da queda nos casos com cefaleia inalterada. Conclusão: Os dados permitem concluir que, nesta série, na maioria dos casos, a redução do nível de PRL foi seguida pela cessação ou alívio da dor.

EVALUATION OF TREATMENT OF CENTRAL HYPOTHYROIDISM VERSUS PRIMARY HYPOTHYROIDISM IN RELATION TO LEVOTHYROXINE REPLACEMENT DOSE.

Objective: The aim of this study was to evaluate levothyroxine (LT4) replacement daily doses in patients with central hypothyroidism (CeH) and compare them with those adequate for patients with primary hypothyroidism (P-HYPO). Methods: We included 53 patients with CeH and 57 with P-HYPO, matched by sex, age, weight, and body mass index, in the period of 1 year. At the time of inclusion, all presented a stable and adequate dose of LT4 for at least 3 months, considering as adequate the dose associated with normal thyroid-stimulating hormone (TSH) levels and free thyroxine (T4) in P-HYPO patients, and free T4 levels in CeH patients. Results: The absolute daily dose of LT4 differed significantly between the two groups, 103.0 ± 27.1 µg (CeH) and 89.3 ± 32.0 µg (P-HYPO) (P = .017), even after adjustment for age, gender, and free T4 (P = .04). The LT4 dose adjusted to weight was also higher after adjustment for age, gender and free T4 (P = .04), with an average of 1.3 ± 0.4 µg/kg (CeH) and 1.2 ± 0.4 µg/kg (P-HYPO). Sheehan syndrome patients had a lower absolute daily dose of LT4 (P = .001), and patients who underwent pituitary radiotherapy required higher doses (P = .008). There was no difference in the daily dose of LT4 according to other pituitary hormone deficiencies. Conclusion: The results reinforce the relevance of a careful individualization of LT4 replacement in CeH management and the need for new markers for proper LT4 replacement therapy in such cases. Abbreviations: BMI = body mass index; CeH = central hypothyroidism; GH = growth hormone; LT4 = levothyroxine; P-HYPO = primary hypothyroidism; T3 = triiodothyronine; T4 = thyroxine; TSH = thyroid-stimulating hormone.

Nutritional and metabolic assessment in overweight patients with and without hyperprolactinemia caused by prolactinoma / Evaluación nutricional y metabólica en pacientes con sobrepeso con y sin hiperprolactinemia causada por prolactinoma

Introduction: prolactinomas are pituitary adenomas that express and secrete prolactin. These patients are overweight and the mechanisms are being studied. Goals: assess nutritional and metabolic status of overweight patients with and without hyperprolactinemia caused by prolactinoma and compare them. Materials and methods: cross-sectional study, patients with body mass index (BMI) greater than or equal to 25 kg/m2 with and without prolactinoma: 1) 20 normoprolactinemic (NPrl) with prolactinoma; 2) 23 hyperprolactinemic (HPrl) with prolactinoma; 3) 28 controls without prolactinoma or alterations in prolactin levels. Evaluated through anthropometric, dietetics, and biochemical assessment. Results: of the 71 patients evaluated, most were obese women with macroprolactinomas. All three groups had diets with low caloric and monounsaturated fatty acid (MUFA) intake, the NPrl group had low carbohydrate (CHO) intake and high lipid (LIP) and saturated fatty acid (SFA) intake, and the NPrl and HPrl groups had appropriate intake of polyunsaturated fatty acids (PUFA). The HPrl group had elevated total cholesterol. HDL cholesterol was below the recommended threshold for most patients. No statistically significant differences were found in anthropometric and biochemical variables among the groups. Conclusions: most patients with prolactinomas and controls are obese and metabolically similar regardless of prolactin levels. All groups presented low caloric and MUFA intake. Protein, LIP, SFA, and cholesterol were significantly different among the groups, the NPrl group ingested less amount of protein and greater of fat. Snacking between meals and changes of food consumption on weekends was reported by most patients. This is the first study comparing patients with prolactinomas and controls, both with overweight, regarding food consumption and feeding behavior (AU)

Introducción: los prolactinomas son adenomas hipofisarios que expresan y secretan prolactina. Estos pacientes tienen sobrepeso y el mecanismo está en estudio. Objetivos: evaluar el estado nutricional y metabólico de los pacientes con sobrepeso con y sin hiperprolactinemia causada por prolactinoma y compararlos. Materiales y métodos: es un estudio transversal con pacientes con índice de masa corporal (IMC) más o menos 25 kg/m2 con y sin prolactinoma: 1) 20 normoprolactinémicos (NPrl) con prolactinoma; 2) 23 hiperprolactinémicos (HPrl) con prolactinoma; 3) 28 controles sin prolactinoma o alteraciones en los niveles de prolactina. Evaluados a través de estudios antropométricos evaluación dietética y bioquímica. Resultados: de los 71 pacientes evaluados, la mayoría eran mujeres obesas con macroprolactinomas. Los tres grupos tenían dietas con baja ingesta de calorías y ácidos grasos monoinsaturados (MUFA), el grupo NPrl tenía ingesta baja en carbohidratos (CHO) y alta en lípidos (LIP) y ácidos grasos saturados (SFA), y los grupos NPrl y HPrl tenían ingesta apropiada de ácidos grasos poliinsaturados (PUFA). El grupo HPrl tenía el colesterol sérico por encima del valor recomendado, mientras el colesterol HDL estaba por debajo del valor recomendado en la mayoría de los pacientes. No se encontraron diferencias estadísticamente significativas en las variables antropométricas y bioquímicas entre los grupos. Conclusiones: la mayoría de los pacientes con prolactinomas y los controles son obesos y metabólicamente similares, independientemente de los niveles de prolactina. Todos los grupos presentaron baja ingesta de calorías y de ácidos grasos monoinsaturados. Proteínas, LIP, SFA y colesterol fueron significativamente diferentes entre los grupos, el grupo de NPrl ingiere menos cantidad de proteína y mayor de grasa. La mayoría de los pacientes manifiestan picar entre las comidas y cambios en el consumo de alimentos los fines de semana. Este es el primer estudio que compara a pacientes con prolactinomas y controles, ambos con sobrepeso, en cuanto a consumo de alimentos y comportamiento alimentario (AU)

Aromatase P450 expression in human pituitary adenomas.

Estrogen has been shown to play an important role in pituitary tumor pathogenesis. In humans, this biosynthesis is mediated by aromatase, an enzyme that converts androgens to estrogens. Just a few studies about aromatase expression in human pituitary gland, both in normal and pathological ones, are found in the literature. This study aimed to assess aromatase enzyme expression in human pituitary adenomas and associate it with gender, tumor size and tumor subtype. We conducted a cross-sectional study, reviewed clinical data and surgical specimens of consecutive 65 patients (35 women and 30 men) with anatomopathologic diagnosis of pituitary adenoma who underwent adenomectomy at a neurosurgical referral center in southern Brazil. Immunohistochemistry was performed to assess aromatase expression and define tumor subtype, and quantitative reverse transcription-polymerase chain reaction (qRT-PCR) to estimate aromatase gene expression. Mean patient age was 45.6 (±13.3) years (range, 18 to 73 years), 86.2% of our samples were macroadenomas while 13.8% were classified as microadenomas. Based on clinical and immunohistochemical data, 23 (35.4%) patients had non-functioning adenomas, 19 (29.2%) had somatotroph adenomas (acromegaly), 12 (18.5%) had lactotroph adenomas (hyperprolactinemic syndrome), and 11 (16.9%) had corticotroph adenomas (Cushing's disease). Immunohistochemical analysis was performed in 59 cases, and 58 (98.3%) showed no aromatase expression. Quantification by qRT-PCR was performed in 43 samples, and 36 (83.7%) revealed no gene expression. Among tumor specimens examined by both techniques (37 cases), 30 showed no gene or protein expression (concordance index, 0.81). It is possible to mention that aromatase expression was lost in most pituitary adenomas, regardless of gender, tumor subtype, or tumor size.

Expression of somatostatin receptors (SSTR1-SSTR5) in meningiomas and its clinicopathological significance.

Meningiomas are benign brain tumors that are usually to recur. Studies have shown in vitro and in vivo that meningiomas, regardless of histology and classification, express somatostatin receptors (SSTRs). We investigated the immunohistochemical expression of five SSTR subtypes (SSTR1-SSTR5) in tumor tissue sections from 60 patients with diagnosis of meningioma who underwent surgical resection and relating it to patient age and sex, tumor histology, location, regrowth/recurrence and follow-up. Mean (SD) patients age was 53.18 (12.6) years and 44 were women (73.3%). According to the WHO histological grading criteria, 47 (78.3%) meningiomas were grade I, 11 (18.3%) were grade II, and 2 (3.3%) were grade III. All five SSTRs were expressed in our sample, at frequencies ranging from 61.6 to 100%, with a predominance of SSTR2. SSTR5 was more frequently expressed in tumors benign than in tumors malignant (P<0.013). Recurrence-free survival rate at 2 years was 75.2%. There were no significant differences in SSTR expression regarding age, sex, tumor location and regrowth/recurrence. SSTR expression was detected at a significant frequency in this series. SSTR5 showed higher expression in tumors benign supporting the use of these SSTRs in diagnostic of meningiomas and their influence in process of tumorigenesis in meningiomas recurrence.

Prolactin gene expression in primary central nervous system tumors.

BACKGROUND: Prolactin (PRL) is a hormone synthesized in both the pituitary gland and extrapituitary sites. It has been associated with the occurrence of neoplasms and, more recently, with central nervous system (CNS) neoplasms. The aim of this study was to evaluate prolactin expression in primary central nervous system tumors through quantitative real-time PCR and immunohistochemistry (IH). RESULTS: Patient mean age was 49.1 years (SD 15.43), and females accounted for 70% of the sample. The most frequent subtype of histological tumor was meningioma (61.5%), followed by glioblastoma (22.9%). Twenty cases (28.6%) showed prolactin expression by immunohistochemistry, most of them females (18 cases, 90%). Quantitative real-time PCR did not show any prolactin expression. CONCLUSIONS: Despite the presence of prolactin expression by IH, the lack of its expression by quantitative real-time PCR indicates that its presence in primary tumors in CNS is not a reflex of local production.

Autoimmune polyglandular syndrome: an unusual presentation with empty sella, premature ovarian failure, and Hashimoto's thyroiditis associated with thyroid cancer.

Autoimmune polyglandular syndromes are rare disorders characterized by failure of several endocrine glands, as well as non-endocrine organs, associated with immune-mediated tissue destruction. We report a rare case of polyglandular syndrome type II in a patient who presented with premature ovarian failure, Hashimoto's thyroiditis and empty sella associated with a diagnosis of differentiated thyroid carcinoma. This case probably represents the first report on this tumor in a patient with polyglandular disorder.

Determination of cell proliferation using Mcm2 antigen and evaluation of apoptosis and TGF-beta1 expression in GH-secreting or clinically nonfunctioning pituitary adenomas.

Pituitary adenomas (PA) occasionally show aggressive behavior, with invasion of the surrounding tissues. The identification of markers able to recognize aggressive PA in early stages remains a challenge. We aimed to determine the expression of a new cell proliferation marker, Mcm2, and the presence of apoptosis in PA, and to evaluate the association of clinicopathological features with the apoptotic and proliferative indices. Additionally, the TGF-beta1 expression, an inducer of apoptosis, was determined. The proliferative index was determined in GH-secreting or clinically nonfunctioning PA using immunohistochemical (IH) methods for Mcm2 and Ki-67 antigens. The apoptosis was assessed by the TUNEL method and the TGF-beta1 expression by IH. A significant positive correlation was found between log Mcm2 index and log Ki-67 index (p < 0.001). Mcm2 and Ki-67 detected a similar number of proliferating cells. Mcm2 index showed a significant association with tumor extension (p = 0.02), but not with tumor invasion. Apoptosis was detected in 17% of the adenomas, with a maximum apoptotic index of 0.77%. Immunoreactivity to TGF-beta1 was observed in 77% of the adenomas, showing an association with tumor extension. We concluded that, in this sample, Mcm2 was similar to Ki-67 in the identification of the proliferating cells and that apoptosis was rare.

Oronasal complications in patients after transsphenoidal hypophyseal surgery.

Transsphenoidal surgery is the most commonly used surgical procedure to handle the hypophyseal region, sometimes associated with oronasal complications. MATERIAL AND METHODS/AIM: To evaluate prospectively (specific questionnaire, clinical evaluation) undiagnosed chronic oronasal complications in patients submitted to conventional transsphenoidal adenomectomy surgery, operated at different neurosurgery services more than 6 months ago. RESULTS: 49 patients were evaluated, 37/45 presented macroadenoma. 28,5% were submitted to more than one intervention, 2/5 transsphenoidally. Transsphenoidal approach 92.8% through sublabial route. No patient had spontaneous complaint. With the specific questionnaire 63.2% presented complaints. One patient presented an oronasal fistula, 1 stenosis of the nasal valve area with external nasal deformity. Rhinoscopy detected alterations in 77.5%, nasal endoscopy in 87.7%. Septal perforation was present in 10/12 patients with scabs and 2 with purulent secretion. All 4 patients submitted to 2 transsphenoidal approaches presented septal perforation and nasal synechiae. In the endonasal, synechiae (2), alteration in medium meatus (1) and stenosis of the nasal valve area (1) were observed. Only two patients presented normal evaluation. CONCLUSION: A high incidence of nasal complications after conventional transsphenoidal surgery observed through examination and not reported spontaneously point to the need of otorhinolaryngological investigation complemented by nasal endoscopy in patients submitted to procedures through this route.

Oronasal complications in patients after transsphenoidal hypophyseal surgery / Complicações oronasais em pacientes pós-abordagem hipofisária via transesfenoidal

Transsphenoidal surgery is the most commonly used surgical procedure to handle the hypophyseal region, sometimes associated with oronasal complications. MATERIAL AND METHODS/AIM: To evaluate prospectively (specific questionnaire, clinical evaluation) undiagnosed chronic oronasal complications in patients submitted to conventional transsphenoidal adenomectomy surgery, operated at different neurosurgery services more than 6 months ago. RESULTS: 49 patients were evaluated, 37/45 presented macroadenoma. 28,5 percent were submitted to more than one intervention, 2/5 transsphenoidally. Transsphenoidal approach 92.8 percent through sublabial route. No patient had spontaneous complaint. With the specific questionnaire 63.2 percent presented complaints. One patient presented an oronasal fistula, 1 stenosis of the nasal valve area with external nasal deformity. Rhinoscopy detected alterations in 77.5 percent, nasal endoscopy in 87.7 percent. Septal perforation was present in 10/12 patients with scabs and 2 with purulent secretion. All 4 patients submitted to 2 transsphenoidal approaches presented septal perforation and nasal synechiae. In the endonasal, synechiae (2), alteration in medium meatus (1) and stenosis of the nasal valve area (1) were observed. Only two patients presented normal evaluation. CONCLUSION: A high incidence of nasal complications after conventional transsphenoidal surgery observed through examination and not reported spontaneously point to the need of otorhinolaryngological investigation complemented by nasal endoscopy in patients submitted to procedures through this route.

A cirurgia transesfenoidal é o procedimento cirúrgico mais utilizado para abordagem da região hipofisária, sendo por vezes associada a complicações oronasais. MATERIAL E MÉTODOS/OBJETIVO: Estudo prospectivo, através de questionário específico e avaliação clínica complicações oronasais crônicas não-diagnosticadas, em pacientes submetidos à cirurgia transesfenoidal convencional em diferentes serviços de neurocirurgia há mais de 6 meses. RESULTADOS: 49 pacientes, 37/45 com macroadenoma. 14/49 submetidos a mais de uma intervenção, em 2/5 por via transesfenoidal. Abordagem transesfenoidal 92,8 por cento via sublabial. Nenhum apresentava queixa espontânea. Com o questionário específico, 63,2 por cento apresentaram queixas. Um apresentava fístula oronasal, outro, estenose da área de válvula nasal com deformidade nasal externa. A rinoscopia detectou alterações em 77,5 por cento e a endoscopia nasal em 87,7 por cento. Perfuração septal presente em 10/12 pacientes com crostas e 2 com secreção purulenta. Todos 4 pacientes submetidos a 2 abordagens transesfenoidais apresentaram perfuração do septo e sinéquias nasais. Nos casos com abordagem endonasal observaram-se sinéquias2, alteração em meato médio1 e estenose em área de válvula nasal1. Apenas 2 pacientes apresentaram avaliação normal. CONCLUSÃO: Alta incidência de complicações nasais após abordagem transesfenoidal convencional, observadas (exame) e não referidas espontaneamente indicam a necessidad de investigação otorrinolaringológica complementada com endoscopia nasal sistemática nestes pacientes.

Possibilidade de associação de melanoma e acromegalia / Possibility of an association between melanoma and acromegaly

Neoplasias como câncer de próstata, mama e cólon estão relacionadas à acromegalia. Raras vezes foi mencionada a associação com melanoma. Descreve-se caso de paciente com acromegalia no qual foi identificada lesão melanocítica suspeita, com posterior confirmação de melanoma. A excisão cirúrgica da lesão levou à cura da neoplasia. Chama-se a atenção para a necessidade de exame cuidadoso da pele de pacientes com acromegalia.

Neoplasias such as prostate, breast, and colon cancer are commonly associated with acromegaly. However, the association of the latter with melanoma has been rarely mentioned. We describe the case of a patient with acromegaly in whom a suspicious melanocytic lesion was detected, and later confirmed to be melanoma by means of biopsy. Surgical excision of the lesion led to the cure of the neoplasia. More attention should be drawn to the need for careful skin examination of patients with acromegaly.

Two cases of Kallmann syndrome associated with empty sella.

Kallmann syndrome (KS) is a developmental disease characterized by the association of isolated hypogonadotropic hypogonadism and anosmia/hyposmia. We report an unusual presentation of two females with KS and empty sella. These females, aged at 20 and 29-year-old, presented primary amenorrhea with prepubertal estradiol and low gonadotropin levels. No other significant clinical signs were observed. Empty sella was observed on MRI in both cases. Sequencing of FGFR1 gene, recently implicated in autosomal form of KS, was performed and one splicing mutation (IVS14 + 1G > A) was identified in one patient.

Avaliação dos hormônios tireóideos e sua relação com a função gonadal na cirrose hepática / Thyroid hormone evaluation and its relation to gonadal function in hepatic cirrhosis

Os testes tireóideos estão frequentemente alterados nas hepatopatias em consequência de alteração nas proteinas carreadoras do hormônio tireóideo. Neste estudo, foram determinadas as concentrações de T3 e T4 totais e TSH em pacientes cirróticos, as quais foram correlacionadas com a gravidade da hepatopatia e a presença de hipogonadismo secundário à cirrose...

Hyperprolactinemia associated to calcification of the pituitary stalk: case report

In this work, the authors report the case of a female patient with 24 years of age with hyperprolactinemia, who presented a pituitary stalk calcification as seen by CT scan. Once other possible etiologies were excluded, we concluded that the calcification was probably related to hyperprolactinemia caused by interruption of the input of dopamine to the pituitary gland.