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1.
Diabetes Res Clin Pract ; 119: 32-40, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27423071

RESUMO

AIMS: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey. METHODS: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3months of data collection period between October 2012 and July 2013. RESULTS: Mean age of patients was 11.3±3.8years. Mean duration of DM was determined as 3.7±3.1years. Majority of patients (85.5%) used basal/bolus injection (BBI), and 6.5% used continuous subcutaneous insulin infusion pump. Assessment of glycemic control based on HbA1c levels showed that 29.1% of patients had an HbA1c value <7.5% (58mmol/mol), 16.1% had a value between 7.5% (58mmol/mol) and 8% (64mmol/mol), 19.1% had a value between 8.1% (64mmol/mol) and 9%(75mmol/mol) and 35.7% a value >9%(75mmol/mol). Hypoglycemia was reported in 145 (29.1%) patients and the number of severe hypoglycemic attacks in the last 3months was 1.0±2.4. Taking into consideration the carbohydrate count and insulin correction dose and parents with high socioeconomic status was related to have better glycemic control. The most common comorbidities were Hashimoto's thyroiditis/hypothyroidism (6.2%) followed by celiac disease (3.8%), epilepsy(1.2%), and asthma(1.0%). CONCLUSIONS: BBI insulin therapy is widely used among pediatric T1DM patients in Turkey. However, despite improvements in treatment facilities and diabetic care, glycemic control is not at a satisfactory level. Therefore, new and comprehensive initiatives require for pediatric T1DM patients with poor glycemic control. Promoting use of carbohydrate count and insulin correction doses may improve the glycemic control of pediatric T1DM in Turkey.


Assuntos
Glicemia/análise , Diabetes Mellitus Tipo 1/tratamento farmacológico , Hemoglobinas Glicadas/análise , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Gerenciamento Clínico , Feminino , Humanos , Lactente , Masculino , Turquia
2.
Endocrine ; 49(2): 479-91, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25500790

RESUMO

To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification. Total frequency of mutations was 30.9 % in patients with CPHD. Frequency was significantly higher in familial patients (p = 0.001). Three different types of mutations in PROP1 gene (complete gene deletion, c.301-302delAG, a novel mutation; IVS1+2T>G) were found in 12 unrelated patients (21.8 %). Mutations in PROP1 gene were markedly higher in familial than in sporadic cases (58.8 vs. 5.3 %, p < 0.001). Homozygous complete gene deletion was the most common mutation in PROP1 gene (8/12) and was identified in six familial patients. Four different homozygous mutations [p.Q4X, novel mutations; exons 1-2 deletion, p.V153F, p.I244S] were detected in POU1F1 gene. Central precocious puberty was firstly observed in a sporadic-male patient with homozygous POU1F1 (p.I244S) mutation. A homozygous mutation in HESX1 gene (p.R160H) was detected in one patient. This study is the first to investigate specific mutations in CPHD patients in Turkey. Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD. We believe that the results of this study will contribute to the establishment of genetic screening strategies in Turkey, as well as to the studies on phenotype-genotype correlations and early diagnosis of CPHD patients.


Assuntos
Proteínas de Homeodomínio/genética , Hipopituitarismo/genética , Proteínas com Homeodomínio LIM/genética , Mutação/genética , Fator de Transcrição Pit-1/genética , Fatores de Transcrição/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Taxa de Mutação , Linhagem , Turquia , Adulto Jovem
3.
J Clin Res Pediatr Endocrinol ; 6(4): 202-8, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25541890

RESUMO

OBJECTIVE: Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the Turkish population have not yet been reported. To identify mutations on GHRHR gene in a population of Turkish children with IGHD. METHODS: Ninety-six Turkish children with IGHD were included in this study. Exon1-13 and exon/intron boundaries of GHRHR were amplified by suitable primers. The polymerase chain reaction products for GHRHR gene were sequenced with primers. RESULTS: We analyzed the GHRHR gene for mutations in ninety-six patients with IGHD based on sequence results. We identified novel p.K264E, p.S317T, p.S330L, p.G369V, p.T257A and C base insertion on position 380 (c.380inserC) mutations. In 5 of the patients, the mutation was homozygote and in 1-heterozygote (p.S317T). CONCLUSION: Six new missense mutations and one first case of insertion mutations for the GHRHR gene are reported.


Assuntos
Nanismo Hipofisário/genética , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Criança , Éxons , Feminino , Humanos , Masculino , Mutagênese Insercional , Mutação de Sentido Incorreto , Turquia
4.
Endocr Pract ; 20(1): 46-51, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-24013997

RESUMO

OBJECTIVE: To evaluate the adherence to growth hormone (GH) therapy and identify the influencing factors and outcomes in children. METHODS: A total of 217 GH-naïve patients in 6 pediatric endocrinology clinics were enrolled in the study. Structured questionnaires were filled out and patients were evaluated at the initiation and 3rd, 6th, and 12th months of therapy. Patients were categorized into 4 adherence segments based on percentage of doses omitted at each evaluation period, classified as excellent if 0%, good if 5%, fair if 5 to 10%, and poor if > 10%. RESULTS: There was a decrement in adherence to GH therapy during the study period (P = .006). Patients who showed excellent and good adherence to therapy had better growth velocity and growth velocity standard deviation scores (SDSs) (P = .014 and P = .015, respectively). A negative correlation between growth velocity SDS and number of missed injections was also observed (r = -.412; P = .007). A positive correlation between delta insulin-like growth factor-1 (IGF-1) SDS and growth velocity was demonstrated (r = .239; P = .042). IGF-1 levels were significantly higher in patients who showed excellent and good adherence to therapy (P = .01). Adherence was better in boys than in girls (P = .035), but adherence rates were not associated with age, cause of GH treatment, socioeconomic status, person who administered the injections, type of injection device, or GH product. CONCLUSION: Poor adherence to GH therapy was common in our group of patients and was one of the factors underlying suboptimal growth during therapy. Before considering other problems that can affect growth, clinicians should confirm good adherence to therapy.


Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Adesão à Medicação , Adolescente , Criança , Feminino , Crescimento/efeitos dos fármacos , Hormônio do Crescimento Humano/deficiência , Humanos , Fator de Crescimento Insulin-Like I/análise , Masculino
5.
Artigo em Inglês | MEDLINE | ID: mdl-23419424

RESUMO

OBJECTIVE: Epidemiologic and clinical features of type 1 diabetes mellitus (T1DM) may show substantial differences among countries. The primary goal in the management of T1DM is to prevent micro- and macrovascular complications by achieving good glycemic control. The present study aimed to assess metabolic control, presence of concomitant autoimmune diseases, and of acute and long-term complications in patients diagnosed with T1DM during childhood and adolescence. The study also aimed to be a first step in the development of a national registry system for T1DM, in Turkey. METHODS: Based on hospital records, this cross-sectional, multicenter study included 1 032 patients with T1DM from 12 different centers in Turkey, in whom the diagnosis was established during childhood. Epidemiological and clinical characteristics of the patients were recorded. Metabolic control, diabetes care, complications, and concomitant autoimmune diseases were evaluated. RESULTS: Mean age, diabetes duration, and hemoglobin A1c level were 12.5 ± 4.1 years, 4.7 ± 3.2 years, and 8.5 ± 1.6%, respectively. Acute complications noted in the past year included ketoacidosis in 5.2% of the patients and severe hypoglycemia in 4.9%. Chronic lymphocytic thyroiditis was noted in 12%, Graves' disease in 0.1%, and celiac disease in 4.3% of the patients. Chronic complications including neuropathy, retinopathy, and persistent microalbuminuria were present in 2.6%, 1.4%, and 5.4% of the patients, respectively. Diabetic nephropathy was not present in any of the patients. Mean diabetes duration and age of patients with neuropathy, retinopathy and microalbuminuria were significantly different from the patients without these long-term complications (p<0.01). A significant difference was found between pubertal and prepubertal children in terms of persistent microalbuminuria and neuropathy (p=0.02 and p<0.001, respectively). Of the patients, 4.4% (n:38) were obese and 5% had short stature; 17.4% of the patients had dyslipidemia, and 14% of the dyslipidemic patients were obese. CONCLUSIONS: Although the majority of the patients in the present study were using insulin analogues, poor glycemic control was common, and chronic complications were encountered.


Assuntos
Doenças Autoimunes/complicações , Glicemia/metabolismo , Diabetes Mellitus Tipo 1/terapia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/imunologia , Diabetes Mellitus Tipo 1/fisiopatologia , Feminino , Hemoglobinas Glicadas/metabolismo , Humanos , Lactente , Insulina/uso terapêutico , Masculino , Obesidade/complicações , Turquia , Adulto Jovem
6.
Horm Res Paediatr ; 77(2): 85-93, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22456308

RESUMO

BACKGROUND/AIM: The exon 3-deleted/full-length (d3/fl) growth hormone (GH) receptor (GHR) polymorphism has been associated with responsiveness to GH therapy in some diagnostic groups. However, there are still controversies on this issue. To evaluate the effect of the GHR exon 3 polymorphism on growth after 1 and 2 years of GH therapy in Turkish patients with GH deficiency (GHD) and Turner's syndrome (TS) and the distribution of GHR exon 3 isoforms. MATERIALS AND METHODS: 218 patients with GHD (125 males/93 females) and 43 patients with TS were included in the study. The control group included 477 healthy adults aged from 18 to 57 years (54 females/423 males). Anthropometric parameters and insulin-like growth factor (IGF)-1 and IGF binding protein (IGFBP)-3 were evaluated annually. GHR isoforms were studied using simple multiplex PCR. Height and body mass index were expressed as standard deviation score (SDS). RESULTS: There were no differences among TS, GHD and healthy adults regarding the distribution of GHR exon 3 isoforms (fl/fl, fl/d3 and d3/d3). There was a significant increase in height SDS in both diagnostic groups on GH therapy; however, there were neither differences in height SDS and Δheight velocity between fl/fl, fl/d3 and d3/d3 groups nor a correlation between the distribution of GHR exon 3 isoforms and change in IGF-1 SDS and IGFBP-3 SDS levels on GH therapy in either of the diagnostic groups. There was also no gender difference in GHR isoforms in healthy adults. CONCLUSION: The results suggest that responsiveness to GH therapy does not depend on the exon 3 GHR genotypes in GHD and TS patients.


Assuntos
Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Polimorfismo Genético , Receptores da Somatotropina/genética , Síndrome de Turner/tratamento farmacológico , Síndrome de Turner/genética , Adolescente , Estatura/efeitos dos fármacos , Criança , Desenvolvimento Infantil/efeitos dos fármacos , Pré-Escolar , Éxons , Feminino , Deleção de Genes , Frequência do Gene , Estudos de Associação Genética , Humanos , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/análise , Masculino , Receptores da Somatotropina/metabolismo , Proteínas Recombinantes/uso terapêutico , Estudos Retrospectivos , Turquia , Síndrome de Turner/sangue
7.
Artigo em Inglês | MEDLINE | ID: mdl-21750637

RESUMO

OBJECTIVE: Along with growth hormone (GH) levels, measurements of serum insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) are used in the diagnosis of GH deficiency and in monitoring the efficacy and safety of long-term GH treatment. The purpose of the present study was to establish reference values for serum IGF-1 and IGFBP-3 in healthy Turkish children less than 6 years of age. METHODS: This study was designed as a multicenter project. Five hundred sixty-seven healthy children younger than 6 years of age from different geographical regions of Turkey, with weight and height values between the 10th and 90th percentiles according to the national standards were included in the study. In addition to anthropometric parameters, serum IGF-1 and IGFBP-3 levels were measured in all subjects. RESULTS: Although not statistically significant, the serum IGF-1 levels in infants at age 6 months were lower than those in infants at age 3 months. The IGF-1 levels showed a slow increase with age. Serum IGF-1 levels were lower in girls as compared to boys only at age 6 months. No correlation was found between either serum IGFBP-3 levels and body mass index (BMI) or serum IGFBP-3 and weight and height standard deviation scores (SDS). A weak correlation was observed between serum IGF-1 and IGFBP-3 concentrations. CONCLUSIONS: The age- and gender-specific reference values for serum IGF-1 and IGFBP-3 reported in this study will aid in the diagnosis of GH deficiency and in the monitoring of children receiving GH treatment.


Assuntos
Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Fatores Etários , Criança , Pré-Escolar , Feminino , Sangue Fetal/metabolismo , Hormônio do Crescimento Humano/sangue , Hormônio do Crescimento Humano/deficiência , Humanos , Lactente , Recém-Nascido , Masculino , Valores de Referência , Fatores Sexuais , Turquia
8.
Artigo em Inglês | MEDLINE | ID: mdl-20128550

RESUMO

PURPOSE: To describe the ocular and refractive findings in patients with Laurence-Moon-Biedl syndrome. METHODS: Seventeen patients with Laurence-Moon-Biedl syndrome were evaluated retrospectively. All children underwent complete ophthalmologic examination. RESULTS: Of the patients evaluated, 88.2% had an ocular or refractive finding, 58.8% had myopia (degenerative in three cases), 52.9% had astigmatism, 11.7% had an-isometropia, 17.6% had strabismus, 11.7% had retinitis pigmentosa, 5.9% had keratoconus, 5.9% had optic atrophy, and 5.9% had nystagmus. CONCLUSION: Early and regular ophthalmologic assessment is required to prevent visual loss as a result of amblyogenic factors in children with Laurence-Moon-Biedl syndrome.


Assuntos
Síndrome de Laurence-Moon/complicações , Erros de Refração/etiologia , Estrabismo/etiologia , Adolescente , Criança , Topografia da Córnea , Feminino , Seguimentos , Humanos , Masculino , Oftalmoscopia , Refração Ocular , Erros de Refração/diagnóstico , Estudos Retrospectivos , Estrabismo/diagnóstico , Acuidade Visual
9.
Int Urol Nephrol ; 42(3): 781-8, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19241137

RESUMO

The widespread utilization of prenatal ultrasonography and the detection of antenatal hydronephrosis (AH) have raised the importance of postnatal follow-up of these infants. In this study, we aimed to determine the importance of an early diagnosis for the treatment of urinary tract malformations (UTM) as well as the postnatal evaluation of growth and nutrition status and the frequency of urinary tract infection (UTI) in infants with AH. We evaluated 246 infants (183 boys, 63 girls) whose routine antenatal scans showed an anterior-posterior pelvic diameter (APPD) ≥5 mm. Of the 246 patients, 175 (71.1%) were found to be pathological and 71 were evaluated as normal after the follow-up period. The median follow-up periods of normal and abnormal cases were 45.7 and 43.4 months, respectively. All cases with or without UTM were evaluated in terms of UTI, scars on DMSA, growth [Height Z score (HZ), Weight Z score (WZ)] and nutrition [Weight height index (WHI)] status. The annual UTI frequency was higher in cases with UTM (1.32 ± 1.66 episode/year) than in cases without abnormality (0.27 ± 0.67 episode/year) (P < 0.001). The postnatal evaluation of growth and nutritional status in children with UTM (mean WHI, HZ, and WZ scores: 96.82 ± 10.21, 0.03 ± 0.54 and 0.04 ± 0.61, respectively) was found to be significantly worse than in cases without abnormality (102.25 ± 9.84, 0.14 ± 0.64 and 0.24 ± 0.76, respectively), (P < 0.05). In abnormal patients, the mean WHI, HZ, and WZ were significantly improved to 101.63 ± 9.75, 0.26 ± 1.07, and 0.28 ± 0.98, respectively, and HZ or WZ scores were found to be similar when compared to normals. In conclusion, postnatal early management of infants with AH seems to prevent frequent UTIs and nutritional disturbances enabling normal growth.


Assuntos
Estatura , Peso Corporal , Hidronefrose/diagnóstico por imagem , Desnutrição Proteico-Calórica/etiologia , Ultrassonografia Pré-Natal , Infecções Urinárias/etiologia , Feminino , Humanos , Hidronefrose/complicações , Lactente , Recém-Nascido , Masculino , Gravidez , Sistema Urinário/anormalidades
10.
J Pediatr Endocrinol Metab ; 22(10): 937-46, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20020582

RESUMO

Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of growth hormone (GH) or lack of growth hormone action. It occurs with an incidence of between 1/4,000 and 1/10,000 live births. Most cases are sporadic and idiopathic but 5-30% of growth hormone deficiency (GHD) has genetic etiology. Mutations in the GH encoding gene (GH-1) have been detected in patients with IGHD. The purpose of this study was to characterize mutations of the GH-1 gene in children with IGHD in the Turkish population. We found four missense mutations (E33G, N47D, T-24A and A13S), one nonsense mutation (W-7X), one insertion and two deletions in nine patients out of seventy-five patients with IGHD. The missense mutation A13S, GAAA insertion at intron 1 (+178A), and the deletions of +83C in intron 1 and deltaF166 in exon 5 are novel mutations.


Assuntos
Códon sem Sentido , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/genética , Mutação de Sentido Incorreto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Turquia
11.
J Pediatr Endocrinol Metab ; 22(2): 143-51, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19449671

RESUMO

We investigated the effects of type of congenital adrenal hyperplasia (CAH), treatment, endocrinological, surgical, and socio-demographic factors as well as patients' body perception on the gender-typed play and behavioral and emotional problems in female children with CAH. The sample included 28 females with CAH (mean age: 12.6 years). We compared patients with CAH to 28 age-matched patients with type 1 diabetes mellitus and 28 healthy controls. Patients with CAH had significantly higher externalization and total problems scores and were less interested in typically female behaviors. The behavioral and emotional problems in patients with CAH were associated with patient satisfaction with the appearance of their genitalia, the surgeons' assessment of the success of the surgical procedures, and mean testosterone level. Our results showed the severity of the behavioral and emotional problems was associated with severity of androgenization, patients' perception of their genitalia and the surgical outcome.


Assuntos
Hiperplasia Suprarrenal Congênita/psicologia , Sintomas Afetivos/psicologia , Transtornos do Comportamento Infantil/psicologia , Identidade de Gênero , Adaptação Psicológica , Adolescente , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/fisiopatologia , Sintomas Afetivos/diagnóstico , Sintomas Afetivos/fisiopatologia , Criança , Transtornos do Comportamento Infantil/diagnóstico , Transtornos do Comportamento Infantil/fisiopatologia , Feminino , Humanos , Jogos e Brinquedos , Inquéritos e Questionários , Testosterona/sangue , Adulto Jovem
12.
Turk J Pediatr ; 51(1): 89-93, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19378901

RESUMO

We present a female infant with facial abnormalities such as bilateral cleft lip and palate, ectrodactyly and central diabetes insipidus. She had a history of recurrent hypernatremic attacks and she was treated successfully with oral desmopressin. As an alternative to the nasal route, long-term management was achieved using oral route and she had a favorable growth and development during infancy.


Assuntos
Anormalidades Múltiplas , Antidiuréticos/uso terapêutico , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Desamino Arginina Vasopressina/uso terapêutico , Diabetes Insípido Neurogênico/tratamento farmacológico , Dedos/anormalidades , Dedos do Pé/anormalidades , Antidiuréticos/administração & dosagem , Desamino Arginina Vasopressina/administração & dosagem , Diabetes Insípido Neurogênico/epidemiologia , Diabetes Insípido Neurogênico/metabolismo , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética
13.
Turk J Pediatr ; 51(6): 539-44, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20196386

RESUMO

The management of children with congenital adrenal hyperplasia (CAH) remains a challenge, especially with regard to their growth potential. We aimed to determine the correlation of the final height of Turkish children with classical CAH to their genetic height potential and to determine the effect of hydrocortisone replacement therapy on the final height. A total of 24 CAH (16 simple virilizing and 8 salt-wasting form) were included in this retrospective longitudinal study. The final height (FH), final height standard deviation score (FHSDS), target height (TH), target height standard deviation score (THSDS), corrected height for target height (CHSDS), weight, and body mass index (BMI) were calculated for all patients. We evaluated the adult height taking into consideration the correlation with the genetic height potential and the country standards. The average follow-up time was 14.2 +/- 3.1 years and the average daily hydrocortisone dose was 19.7 +/- 2.9 mg/m2. The mean FH and FHSDS were 152.2 +/- 7.2 cm and -1.0 +/- 1.1 SD, respectively, in females and 163.1 +/- 6.6 cm and -1.2 +/- 1.0 SD, respectively, in males. The CHSDS was found to be -0.73 +/- 0.9 SD. FH was below the TH in 79.1% of our cases. In 20.8% of our patients, FH was less than the third percentile for the standard height for our country. Interestingly, the FH showed no correlation with the dosage of hydrocortisone. Thirteen of our cases (54.2%) reaching FH were obese/overweight. A positive correlation was detected between hydrocortisone treatment and the BMI. The observations that 79.1% of our classical CAH cases receiving an average daily hydrocortisone dose of 19.7 +/- 2.9 mg/m2 ended up with an adult height below the TH and that 54.2% of the cases were overweight/obese lead us to believe that we should be using the lowest possible dose for treatment.


Assuntos
Hiperplasia Suprarrenal Congênita/fisiopatologia , Estatura/fisiologia , Terapia de Reposição Hormonal/métodos , Hidrocortisona/administração & dosagem , Adolescente , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Índice de Massa Corporal , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos Retrospectivos , Fatores de Tempo
14.
J Pediatr Endocrinol Metab ; 21(2): 181-3, 2008 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18422031

RESUMO

Virilization in childhood results from an adrenal and/or ovarian disorder. These children usually present with hyperandrogenism: acne, deepening voice, abnormal hair growth, cliteromegaly. Ovarian Leydig cell tumor is a very rare cause of hyperandrogenism in childhood. They are usually benign and surgical treatment is usually curative if the tumor is limited to the ovaries. We present the youngest case of ovarian Leydig cell tumor reported in the literature who presented with hyperandrogenism that was satisfactorily resolved after resective surgery. Rare causes of virilization should be investigated with special attention paid to tumoral disease in the differential diagnosis.


Assuntos
Tumor de Células de Leydig/complicações , Neoplasias Ovarianas/complicações , Virilismo/etiologia , Pré-Escolar , Feminino , Humanos , Hiperandrogenismo/etiologia , Tumor de Células de Leydig/patologia , Tumor de Células de Leydig/cirurgia , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia
15.
Clin Endocrinol (Oxf) ; 68(5): 769-72, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-17980015

RESUMO

BACKGROUND: Patients with Turner syndrome (TS) are treated with GH to increase adult height. Although it is well established that GH promotes longitudinal bone growth, the effects of GH treatment on bone density are less clear. OBJECTIVE: To determine how GH treatment affects trabecular bone mineral density (BMD) in girls with TS at prepubertal ages in a prospective multicentre study. PATIENTS AND METHOD: Twenty-two patients with TS in the prepubertal period with a mean age of 9.8 +/- 2.5 (range 3.6-12.8) years were included in the study. All girls with TS underwent measurement of areal BMD using dual-energy X-ray absorptiometry (DXA) to obtain pretreatment anteroposterior (AP) lumbar spine values at L1-L4. Patients received GH (Genotropin) subcutaneously for 1 year at a dose of 0.05 mg/kg/day. Height and weight were measured at 3-monthly intervals. The AP lumbar spine areal BMD was remeasured using the same technique after 1 year of treatment. Lumbar spine BMD Z-scores and volumetric BMD (vBMD) Z-scores were calculated using national standards. RESULTS: The height SDS of our cases showed a significant increase with GH therapy. The pretreatment lumbar spine (L1-L4) BMD Z-score was -1.2 +/- 1.2 SD and the vBMD Z-score was -0.8 +/- 1.6 SD. There were no significant changes in these values after 1 year of GH treatment. Prepubertal TS girls more than 11 years of age had lower vBMD Z-scores (-1.7 +/- 1.7 SD) than the girls aged less than 11 (-0.1 +/- 1.0 SD) (P < 0.05) at the onset of therapy. No significant changes were observed in these values after 1 year of GH therapy. CONCLUSIONS: Osteopaenia becomes apparent in prepubertal TS patients as they reach pubertal age. BMD evaluation may be necessary in these prepubertal TS girls at diagnosis. Short-term GH therapy in these TS patients does not have a significant effect on bone density when measured at a site with a predominance of trabecular bone.


Assuntos
Densidade Óssea/efeitos dos fármacos , Doenças Ósseas Metabólicas/prevenção & controle , Hormônio do Crescimento Humano/administração & dosagem , Síndrome de Turner/tratamento farmacológico , Absorciometria de Fóton , Doenças Ósseas Metabólicas/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Puberdade , Resultado do Tratamento
16.
J Glaucoma ; 16(7): 627-30, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-18091182

RESUMO

PURPOSE: To establish the relationship between intraocular pressure (IOP) and obesity in children. METHODS: Seventy-two obese children (body mass index in the 95th percentile or greater) were compared with 72 age-matched and sex-matched controls (body mass index <95th percentile). Both groups underwent Goldmann applanation tonometry (3 times), blood pressure measurement (3 times), and Hertel exophthalmometry. Paired and unpaired t tests and the Cochran-Mantel-Haenzel statistics were used for statistical analysis. RESULTS: The mean IOP between the obese children and controls were significantly different (P<0.0001), even after adjusting for systolic and diastolic blood pressure (P<0.001). Diurnal variation of IOP was higher in obese children (P<0.001). Obese children had higher Hertel values (P<0.001). Sex did not significantly effect IOP in either group (P>0.05). CONCLUSIONS: In addition to its indirect effect on IOP via blood pressure change, obesity is also an independent risk factor for increased IOP.


Assuntos
Pressão Intraocular/fisiologia , Obesidade/fisiopatologia , Hipertensão Ocular/fisiopatologia , Adolescente , Pressão Sanguínea , Índice de Massa Corporal , Criança , Exoftalmia/fisiopatologia , Feminino , Humanos , Masculino , Obesidade/complicações , Hipertensão Ocular/etiologia , Fatores de Risco , Tonometria Ocular
18.
Pediatr Endocrinol Rev ; 4(3): 210-7, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17551482

RESUMO

The most complicated group of sexual differentiation disorders is that of gonadal development. Disorders of gonadal development form a wide clinical, cytogenetic and histopathological spectrum. There are still some unsolved difficulties of diagnosis, development of malignancy and the sex rearing of these patients. We reviewed 23 cases of gonadal developmental disorders among 169 patients with ambiguous genitalia or delayed puberty. Among 169 patients, 87 patients were 46,XY disorders of sex development (DSD), 59 patients were 46,XX DSD without disorders of gonadal development and the remaining 23 patients had disorders of gonadal development. Nine of these 23 patients were diagnosed as 46,XY gonadal dysgenesis, 7 patients had ovotesticular DSD, 5 patients had 45,X/46,XY mixed gonadal dysgenesis. Fourteen patients with disorders of gonadal development had genital ambiguity, 5 patients had a female genital phenotype with a palpable gonad and/or delayed puberty. Four patients had the male genital phenotype. Disorder of gonadal development is a very important clinical problem with different aspects of diagnosis, treatment, rearing sex and prophylaxis. Each patient should be evaluated individually employing a multidiciplinary approach.


Assuntos
Disgenesia Gonadal 46 XX/genética , Disgenesia Gonadal 46 XY/genética , Ovário/patologia , Testículo/patologia , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Disgenesia Gonadal 46 XX/patologia , Disgenesia Gonadal 46 XY/patologia , Humanos , Lactente , Recém-Nascido , Cariotipagem/métodos , Masculino , Prognóstico , Análise para Determinação do Sexo/métodos
19.
Horm Res ; 68(1): 1-7, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17204837

RESUMO

BACKGROUND: Concomitant evaluation of the metabolic and growth-promoting effects of growth hormone (GH) therapy in Turner syndrome (TS) may be used in the prediction of the growth response to GH therapy. AIM: To evaluate the metabolic effects of GH therapy in TS and correlation with the short-term growth response. PATIENTS: 24 prepubertal children with TS, aged 9.4 +/- 2.6 years were followed for auxology and IGF-I, IGFBP-3, leptin, ghrelin, adiponectin, lipids and OGTT results in a prospective multicenter study. INTERVENTION: GH (Genotropin) in a dose of 50 microg/kg/day for 1 year. RESULTS: Height standard deviation score (SDS) increased from -3.9 +/- 1.5 to -3.5 +/- 1.4 (p = 0.000) on therapy. BMI did not change. IGF-I SDS increased from -2.3 +/- 0.4 to -1.6 +/- 1.1 at 3 and 6 months (p = 0.001) and decreased thereafter. Serum leptin decreased significantly from 2.3 +/- 3.9 to 1.7 +/- 5.3 ng/ml (p = 0.022) at 3 months and increased afterwards. Serum ghrelin decreased from 1.2 +/- 0.8 to 0.9 +/- 0.4 ng/ml (p = 0.005) with no change in adiponectin. Basal and stimulated insulin levels also increased significantly. Delta height SDS over 1 year showed a significant correlation with Delta IGF-I(0-3 months) (r = 0.450, p = 0.027). CONCLUSION: IGF-I may be considered as a marker of growth response in TS at short term. Leptin shows a decrease at short term but does not have a correlation with growth response. The decrease in ghrelin in face of unchanged weight seems to be associated with increase in IGF-I and insulin levels. The unchanged adiponectin levels in spite of an increase in insulin levels indicates that adiponectin is mainly affected by weight, not insulin.


Assuntos
Crescimento/efeitos dos fármacos , Hormônio do Crescimento Humano/uso terapêutico , Resistência à Insulina , Hormônios Peptídicos/efeitos dos fármacos , Síndrome de Turner/tratamento farmacológico , Adiponectina/sangue , Criança , Pré-Escolar , Colesterol/sangue , Feminino , Grelina , Hormônio do Crescimento Humano/farmacologia , Humanos , Leptina/sangue , Hormônios Peptídicos/sangue , Triglicerídeos/sangue , Síndrome de Turner/sangue , Síndrome de Turner/fisiopatologia
20.
Turk J Pediatr ; 48(3): 228-31, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17172066

RESUMO

The aim of this study was to evaluate the efficiency of low-dose hCG (human chorionic gonadotropin) (500 IU/week for 3 weeks) in the treatment of cryptorchidism and in the assessment of Leydig cell functions. We include 35 male patients who had been diagnosed with cryptorchidism by the pediatric endocrinology specialist in the study. Twenty-one cases (Group I) received 500 IU/week of hCG while 14 patients (Group II) received 1500 IU/m2 three times a week, both for three weeks. The percentage of testis descent was calculated for both groups for the right and left testes. Leydig cell functions were evaluated by the pre- and post-treatment measurement of plasma testosterone level in all cases. A delta testosterone greater than 100 was considered to be a sufficient response. Among our patients, 77% had unilateral and 23% bilateral cryptorchidism. Unilateral cryptorchidism was detected in 80.9% of Group I patients and 71.4% of Group II patients. The pre-treatment percentages for Group I of right- and left-sided cryptorchidism were 81% and 38.1%, respectively, which decreased to 23.8% and 9.5% after treatment. The pre-treatment percentages for Group II of right- and left-sided cryptorchidism were 57.1% and 71.4%, respectively, which decreased to 14.3% and 35.7% after treatment. The success rate of hCG treatment, as defined by the testis descending into the scrotum, was 66.7% for Group I and 57.1% for Group II (p > 0.05). There was no significant difference between the two groups when Leydig cell functions were assessed. In conclusion, it is possible to use low-dose hCG for the treatment of cryptorchidism and the assessment of Leydig cell functions.


Assuntos
Gonadotropina Coriônica/administração & dosagem , Criptorquidismo/tratamento farmacológico , Pré-Escolar , Humanos , Células Intersticiais do Testículo/efeitos dos fármacos , Masculino , Estatísticas não Paramétricas , Resultado do Tratamento
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