Perfil epidemiológico dos pacientes atendidos por baixa estatura no ambulatório de endocrinologia pediátrica da UNIVALE (Itajaí-SC) / Epidemiological profile of pacients treated for short stature at the pediatric endocrinology outpatient of UNIVALE (Itajaí-SC).

A baixa estatura é a condição em que o paciente encontra-se abaixo de ­ 2 desvios-padrão da altura de crianças da mesma idade e sexo. Sua investigação, diagnóstico e tratamento, quando necessários e adequados, auxiliarão o paciente a atingir seu potencial de altura. O objetivo do presente estudo consiste na avaliação do perfil dos pacientes atendidos por baixa estatura no Ambulatório de Endocrinologia Pediátrica, e verificar sua resposta ao uso de hormônio de crescimento (GH), quando indicado. Para tanto, foi realizada análise de prontuários de 192 pacientes atendidos por baixa estatura, entre janeiro de 2000 a junho de 2014. Como resultado da análise, 55% dos pacientes apresentavam-se com estatura abaixo do normal para a idade e o sexo, e 43% abaixo do canal familiar de altura. A deficiência de hormônio de crescimento (DGH) foi encontrada em 27,6% dos pacientes, a baixa estatura familiar em 6,5% e a Síndrome de Turner (ST) em 3,9%. O tratamento com GH foi realizado em 30 pacientes, com média de idade de inicio de tratamento para os pacientes com DGH de 11,5 anos e de 9,5 anos para ST. A média do escore Z dos pacientes com DGH antes e depois do tratamento foi ­ 2,64 e ­ 2,15 (p<0,01); para a ST, não houve diferença estatisticamente significativa (p=0,79) após o uso de GH. Concluímos então que a deficiência de GH foi o diagnóstico mais encontrado, sendo o ganho de estatura com uso de GH estatisticamente significante nas pacientes com DGH, mas não nos pacientes com ST.

Short stature is a condition in which the patient lies down -2 standard-deviations of the hight of children of the same age and gender. The investigation, diagnosis and treatment when necessary, assist the patient to reach its full potential height. The objective of the study is to evaluate the profile of patients treated by short stature and verify the response to treatment with growth hormone (GH) when indicated. We analyzed medical records analysis of 192 patients treated by short stature, from January 2000 to June 2014. The results showed 55% of the patients presented with height below the minimum normal for age and sex and 43% were below the family hight zone. Growth hormone deficiency (GHD) was found in 27,6% of patients, low family stature by 6,5% and the Turner Syndrome (TS) at 3.9%. GH treatment was performed in 30 patients, with a average age of initiation of treatment for patients with GHD 11.5 years and 9.5 years for TS. The average Z-score of GHD patients before and after treatment was - 2.64 and - 2.15 (p <0.01); for TS, there was no statistically significant difference (p = 0.79) after the treatment with GH. We concluded that GH deficiency was the most common diagnosis; the gain in height with the use of GH was statistically significant in patients with GHD, but not in patients with TS.

Deficiência de hormônio de crescimento em um paciente com síndrome de VACTERL / Growth hormone deficiency in a patient with VACTERL syndrome

A Síndrome de VACTERL é um conjunto de malformações congênitas, que necessita para o diagnóstico pelo menos três das seguintes alterações: malformações vertebrais, atresia anal, anomalias cardiovasculares, fístula traqueoesofágica, atresia esofágica, malformações renais e displasia dos membros. É relatado caso de paciente com Síndrome de VACTERL e deficiência de hormônio de crescimento. A revisão da literatura aborda uma possível associação entre esses dois diagnósticos clínicos (AU)

The VACTERL syndrome is a set of congenital malformations, which requires at least three of the following changes to be diagnosed: vertebral defects, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal malformations and dysplasia of the limbs. Here we report the case of a patient with VACTERL syndrome and deficiency of growth hormone. A literature review discusses the possible association between these two clinical diagnoses (AU)

Clinical and radiological findings of incidental Rathke's cleft cysts in children and adolescents

PURPOSE: In the pediatric population, Rathke's cleft cysts (RCCs) are known to be an infrequent cause of headaches, visual disturbances, and pituitary dysfunction. We investigated the clinical characteristics of children in whom RCCs were incidentally discovered and evaluated whether RCCs influence the treatment response of patients with proven endocrinopathy. METHODS: A retrospective analysis was conducted in 34 patients with RCCs who were diagnosed between 2006 and 2013 at Hallym University Medical Center. Their clinical, hormonal, and imaging findings were reviewed. We evaluated the clinical outcomes of the patients with concomitant RCCs and endocrinopathy compared to matched controls. RESULTS: Twenty-six of 34 patients with radiologically proven RCCs had endocrine disorders. They were 9 boys and 17 girls, with ages ranging from 4.8 to 17.4 years at the time of the diagnosis. Of these, 7 (27%) had idiopathic short stature, 7 (27%) had growth hormone deficiency (GHD), and 12 (46%) had central precocious puberty (CPP). Nineteen of 26 patients (73.1%) showed low signal intensities on T1-weighted images (T1WI) and high signal intensities on T2-weighted images. The incidence of hypointensity on T1WI was higher in the patients with RCCs accompanied by endocrinopathy than in those without endocrinopathy (P=0.033). The treatment outcomes of the patients with CPP and GHD with and without RCCs were similar. CONCLUSION: CPP and GHD patients with a small RCC (less than 20 mm) expressing cystic magnetic resonance intensity can be managed with medical treatment, although the RCCs need to be closely monitored in radiological studies to observe their growth.

Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency

PURPOSE: Growth hormone (GH) plays a key role in the regulation of body composition, lipid metabolism, and quality of life in adults with GH deficiency (GHD). This study investigated changes in laboratory findings and body composition after GH recommencement for adult GHD and analyzed correlation between GH interruption period and endocrine or anthropometric parameters. METHODS: A total of 45 patients (17 females and 28 males) diagnosed with childhood-onset GHD (CO-GHD) were investigated and all patients had organic brain lesions. Patients diagnosed CO-GHD were retested to confirm adult GHD at age 20.4+/-5.0 years (18.0-32.1 years). Recombinant human GH was administered at a dose of 0.44 mg/day. Clinical and laboratory parameters such as weight, height, body mass index (BMI), serum insulin-like growth factor 1 (IGF-1), serum total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride levels, were compared between baseline and 12 months after treatment using paired t-test. In addition, correlation between GH interruption period and clinical parameters including BMI, lipid profile, IGF-1, and IGFBP-3, was analyzed. RESULTS: Of 45 patients, 33 patients had GH interruption period of 4.3+/-3.6 years (0.7-12.5 years). Serum HDL-cholesterol level increased significantly, whereas LDL-cholesterol decreased after 1 year of GH replacement therapy. However, body weight and BMI showed no significant changes after 1 year of GH replacement therapy. There were no significant correlations between GH interruption period and lipid profile or anthropometric parameters. CONCLUSION: BMI and body weight were not affected by GH replacement. However, GH replacement in adults with GHD offers benefits in lipid metabolism.

Basal encephalocele associated with morning glory syndrome: case report

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging.

As encefaloceles basais são entidades raras e correspondem a herniações do tecido cerebral através de um defeito do crânio, ao longo da lâmina crivosa etmoidal ou do osso esfenoidal. A rara síndrome morning glory, com alterações de fundo de olho características pode apresentar-se associada à encefalocele basal. Deficiências hormonais hipofisárias podem ocorrer. Relatamos caso de nanismo hipofisário com encefalocele transesfenoidal de diagnóstico tardio associada à síndrome de morning glory, mostrando as alterações na retinografia, tomografia computadorizada e ressonância magnética.

THE SERUM UPID, APOLIPOPROTEIN A_1 AND B LEVEL IN PITUITARY DWARFISM / 中华内分泌代谢杂志

Serum total cholesterol (TC), triglyceride (TG), high density lipoprotein (HDL-C), low density lipoprotein (LDL-C), apolipoprotein A1 (Apo A1) and apolipoprotein B (Apo B) were analyzed in 25 cases of pituitary dwarfism with 30 age-matched healthy children as control. The effect of human growth hormone (hGH) therapy for 3 months on these indices were also observed.As a result, the mean values of TC, TG, LDL-C and Apo B in the patients were significantly higher than those in the control, while the mean Apo A1 value was below that of the control. After a 3-month hGH therapy, the TC, LDL-C and Apo B levels decreased significantly while TG and Apo At levels increased significantly. We concluded that lipid metabolic disorder existed to certain extent in patients with pituitary dwarfism and that growth hormone deficiency ,was the main cause of the disorder.