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1.
Endocr J ; 70(3): 333-340, 2023 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-36504089

RESUMO

Obesity is a major complication in children with 21-hydroxylase deficiency (21-OHD). There is evidence to show that higher body mass index (BMI) during infancy and early childhood is associated with an increased risk for the subsequent development of obesity in the general population; however, limited information is currently available on this issue in 21-OHD patients. Additionally, despite the frequent use of supraphysiological dosages of hydrocortisone in 21-OHD, the association between BMI and hydrocortisone dosage during these periods remains largely unclear; therefore, we retrospectively investigated BMI at approximately 1 and 3 years old and its association with hydrocortisone dosage in 56 children with 21-OHD. The median BMI-standard deviation score (SDS) was 0.28 (Interquartile range [IQR]: -0.53 to 1.09) and 0.39 (IQR: -0.44 to 1.14) at approximately 1 and 3 years old, respectively, and no association was observed between hydrocortisone dosage and BMI-SDS at either time-point; however, multivariate analysis revealed that hydrocortisone dosage at approximately 1 year old was positively associated with changes in BMI (ß = 0.57, p = 0.013) and BMI-SDS (ß = 0.59, p = 0.011) between approximately 1 and 3 years old after adjustment for age, sex, and changes in hydrocortisone dosage during the same period. The average dosage of hydrocortisone between approximately 6 months and 1 year old also showed similar results. These results indicate that a higher dosage of hydrocortisone during late infancy is associated with a higher BMI at approximately 3 years old, which may lead to the development of obesity later in life in children with 21-OHD.


Assuntos
Estatura , Hidrocortisona , Criança , Humanos , Pré-Escolar , Lactente , Índice de Massa Corporal , Estudos Retrospectivos , Obesidade
2.
Clin Endocrinol (Oxf) ; 95(1): 84-91, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33872421

RESUMO

OBJECTIVE: Osteoporosis is an important health issue in patients with Turner syndrome (TS), and oestrogen sufficiency has been implicated in increased bone mineral density (BMD); however, the impact of the starting age of hormone replacement therapy (HRT) on bone mineral density remains unclear, particularly during young adulthood. DESIGN: A retrospective study from three tertiary care hospitals in Japan. PATIENTS: One hundred and three patients with TS aged between 18 and 30 years of age who underwent dual-energy X-ray absorptiometry. MEASUREMENTS: Anthropometric parameters, lumbar bone mineral density (L-BMD), including areal BMD (aBMD) and volumetric BMD (vBMD), karyotypes, the presence of spontaneous menarche, the starting ages of oestrogen replacement therapy (ERT) and oestrogen-progestin therapy (EPT), and the duration between starting ages of oestrogen replacement therapy and oestrogen-progestin therapy were investigated. vBMD was calculated based on the Kröger method. RESULTS: aBMD was lower in young adults with TS than in an age-matched reference population. L-BMD positively correlated with weight and body mass index (BMI). L-BMD was higher in subjects with spontaneous menarche (N = 22) than in those without. A dose escalation regimen of oestrogen replacement therapy was used in 84% of subjects without spontaneous menarche (N = 81). The starting age of oestrogen replacement therapy and the duration between the starting ages of oestrogen replacement therapy and oestrogen-progestin therapy negatively and independently correlated with aBMD, but not with vBMD, after adjustment with age and BMI. The starting age of oestrogen-progestin therapy negatively correlated with L-BMD independent of age and BMI. CONCLUSIONS: Early introduction of hormone replacement therapy, particularly oestrogen-progestin therapy, is important to accrue better L-BMD in young adults with TS.


Assuntos
Densidade Óssea , Terapia de Reposição de Estrogênios , Síndrome de Turner , Absorciometria de Fóton , Adolescente , Adulto , Índice de Massa Corporal , Estrogênios/uso terapêutico , Feminino , Humanos , Progestinas/uso terapêutico , Estudos Retrospectivos , Síndrome de Turner/tratamento farmacológico , Adulto Jovem
3.
Endocr J ; 67(10): 1023-1028, 2020 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-32554947

RESUMO

Osteoporosis is one of the clinical features of women with Turner syndrome (TS). The reasons for low bone mineral density (BMD) and increased bone fragility are multifactorial, including estrogen deficiency, X-chromosome abnormalities, and environmental factors. Few, large-scale studies on bone mineral density in either adolescents or adults with TS have been done in Japan. The goal of the present study was to investigate spinal BMD in women with TS, assess its relationship with clinical parameters, especially estrogen replacement therapy, and investigate its longitudinal changes. The spinal BMD and clinical data of 149 Japanese women with TS aged 15 to 49 years who were followed at the four participating hospitals were retrospectively analyzed. The BMD Z-scores of the women with TS ranged from -5.30 to +1.89. Women with TS aged 15-39 years had lower BMD than healthy Japanese women (p < 0.01) while women with spontaneous menstruation had a significantly higher BMD Z-score than those without spontaneous menstruation (-0.73 ± 1.11 vs. -1.67 ± 1.18, p < 0.01). In women without spontaneous menstruation, BMD Z-scores correlated with the duration of their estrogen therapy (r = 0.167, p < 0.01). Women aged 15-39 years with TS had low BMD, which was associated with primary amenorrhea and short estrogen replacement therapy duration.


Assuntos
Amenorreia/fisiopatologia , Densidade Óssea , Terapia de Reposição de Estrogênios/estatística & dados numéricos , Vértebras Lombares/diagnóstico por imagem , Osteoporose/diagnóstico por imagem , Síndrome de Turner/fisiopatologia , Absorciometria de Fóton , Adolescente , Adulto , Feminino , Humanos , Japão , Estudos Longitudinais , Menstruação , Pessoa de Meia-Idade , Osteoporose/fisiopatologia , Estudos Retrospectivos , Síndrome de Turner/tratamento farmacológico , Adulto Jovem
4.
Endocr J ; 67(8): 853-857, 2020 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-32321882

RESUMO

Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis that causes various symptoms such as skeletal malformations, disorders of sex development, and adrenal insufficiency. The aim of this study was to elucidate the clinical characteristics, especially age at diagnosis and treatment, of PORD from the perinatal period to adulthood in Japan. The first questionnaire was sent to 183 council members of the Japanese Society for Pediatric Endocrinology on 1 September 2018. The response rate was 65%, and a total of 39 patients with PORD were examined at 20 hospitals. The second questionnaire was sent in November 2018 to the council members examining these 39 patients with PORD. The response rate was 77%, and we received clinical information on 30 of the 39 patients. The two novel clinical findings were the age at diagnosis and the treatment of Japanese patients with PORD. In many cases, PORD can be diagnosed at <3 months of age. Hydrocortisone as the primary treatment during infancy can be used daily or in stressful situations; however, because patients with PORD generally have mild to moderate adrenal insufficiency, some might be able to avoid hydrocortisone treatment. Patients with PORD should be carefully followed up, and treatment should be optimized as for patients with other types of adrenal insufficiency. Other characteristics in the present study were similar to those described in previous reports.


Assuntos
Fenótipo de Síndrome de Antley-Bixler/epidemiologia , Fenótipo de Síndrome de Antley-Bixler/terapia , Adolescente , Adulto , Idade de Início , Fenótipo de Síndrome de Antley-Bixler/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Gravidez , Inquéritos e Questionários , Adulto Jovem
5.
Allergol Int ; 68(1): 96-100, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30297096

RESUMO

BACKGROUND: Pteridines are metabolites of tetrahydrobiopterin, which serves as co-enzyme of nitric oxide synthase. We sought to investigate the usefulness of pteridines as biomarkers for childhood asthma control. METHODS: We conducted a single-center prospective cohort study involving 168 asthmatic children aged 4-17 years who visited the periodical asthma checkup program. Serum neopterin and biopterin levels were measured as pteridines at each visit along with measurement of FeNO, respiratory function tests, nasal eosinophil test, blood eosinophil count, and IgE level. We calculated coefficients for relation between pteridines and asthma control, which was assessed by questionnaires (JPAC: Japanese Pediatric Asthma Control Program). RESULTS: A total of 168 participants aged 10.3 ± 3.39 years (mean ± SD) with asthma were recruited. The participants in this study contained 58 patients (34.5%) of complete-controlled based on JPAC, 132 patients (76.0%) of well-controlled group based on GINA. FeNO and serum neopterin level did not correlate with following period's JPAC scores. In contrast, serum biopterin level significantly correlated with following period's JPAC total score (Coefficients 0.398; 95% CI 0.164 to 0.632; p value 0.001) and frequency of wheezing during exercise (Coefficients 0.272; 95% CI 0.217 to 0.328; p value < 0.001). CONCLUSIONS: We found serum biopterin effected the following period's control status of asthmatic children, thus monitoring biopterin level will be a useful for management of asthma to adjust treatment.


Assuntos
Asma/sangue , Biopterinas/sangue , Adolescente , Asma/fisiopatologia , Biomarcadores/sangue , Testes Respiratórios , Criança , Feminino , Humanos , Masculino , Óxido Nítrico/metabolismo , Estudos Prospectivos , Sons Respiratórios , Espirometria
6.
Endocr J ; 64(5): 499-505, 2017 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-28331102

RESUMO

Turner syndrome results from the entire or partial loss of the second X chromosome, and is associated with a number of medical problems. Affected women require long-term medical follow-up. This study investigated the status of medical follow-up focusing on the transition for young adult women with Turner syndrome (TS). The clinical profiles of 63 women with TS over the age of 16 were retrospectively examined. Thirty-three women are continuously followed by pediatric endocrinologists at our pediatric division. Twenty women were transferred to gynecologists as primary care physicians. Eight young adult women dropped out of the regular health check-up from our pediatric division even though 7 women were undergoing estrogen replacement therapy. We further reviewed the complications and management of the 33 women who were continuously followed at our pediatric division. A high incidence of obesity and liver dysfunction were observed in this age group (23.5±8.7). Nineteen out of 33 women consulted a cardiologist in the adult care division for cardiovascular complications. In the analysis of 20 women who were transferred to gynecologists, mainly two gynecologists accepted the transfer and have become accustomed to clinical care for TS. Seven women who were followed by the gynecologist in our facility were adequately managed for lifelong complications. Since there is no clear framework for transition in Japan, coordination with other specialists, especially gynecologists, is essential for the successful management of adult women with TS. Patient education and provision of information are required for establishing self-advocacy, which will prevent drop-out.


Assuntos
Doenças Cardiovasculares/complicações , Hepatopatias/complicações , Obesidade/complicações , Transição para Assistência do Adulto , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Adolescente , Adulto , Doenças Cardiovasculares/epidemiologia , Progressão da Doença , Terapia de Reposição de Estrogênios , Feminino , Humanos , Incidência , Japão , Hepatopatias/epidemiologia , Obesidade/epidemiologia , Estudos Retrospectivos , Síndrome de Turner/tratamento farmacológico , Adulto Jovem
7.
Pediatr Int ; 58(11): 1239-12342, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27882732

RESUMO

Insulinoma is generally identified as a single tumor and seldom occurs in children or adolescents. A 14-year-old girl with difficulty in waking was found to have hyperinsulinemic hypoglycemia. On abdominal ultrasonography two hypoechoic masses (8 and 12 mm in diameter) were seen in the pancreatic body: the larger mass was hypervascular, whereas the smaller one was hypovascular. Contrast-enhanced computed tomography showed enhancement of the larger mass, but did not delineate the smaller mass. On fat-suppressed T1-weighted magnetic resonance imaging, the larger mass was hypointense, but the smaller mass was hyperintense. Pathologically, the larger tumor was normal density, insulin positive, and rich in vascularity, whereas the smaller tumor was high density, insulin negative, and poor in vascularity. The present case suggests that difficulty waking should be considered as a potential etiology in insulinoma, and multiple suspected pancreatic insulinomas should be evaluated using a combination of imaging modalities to characterize each tumor.


Assuntos
Insulinoma/diagnóstico , Imageamento por Ressonância Magnética/métodos , Estadiamento de Neoplasias , Pâncreas/diagnóstico por imagem , Neoplasias Pancreáticas/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia Doppler em Cores/métodos , Adolescente , Feminino , Humanos
8.
Clin Pediatr Endocrinol ; 33(2): 59-65, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38572387

RESUMO

Type 1 diabetes mellitus (T1DM) adversely affects gonadal function. This study aimed to define the characteristics and factors associated with menstrual cycle abnormalities and polycystic ovary syndrome (PCOS) in Japanese patients with T1DM. Our study enrolled 157 patients, including 55 with oligomenorrhea (prolonged menstrual cycle) and 102 without oligomenorrhea. LH/FSH ratio (p = 0.04) and total testosterone levels (p = 0.03) were significantly higher in the oligomenorrhea group than in the non-oligomenorrhea group. No significant differences were found between the two groups regarding age at menarche, age at T1DM diagnosis, treatment, glycated hemoglobin, or total daily insulin dose. Of the 55 patients in the oligomenorrhea group, 27 were diagnosed with PCOS based on the Rotterdam criteria. We concluded that female patients with T1DM, as well as abnormal menstrual cycles and hyperandrogenism, may suffer from undiagnosed PCOS and should be referred to a gynecologist for full assessment, diagnosis, and treatment.

9.
10.
Clin Pediatr Endocrinol ; 29(2): 49-53, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32313372

RESUMO

In females, endogenous estrogen secretion increases gradually before pubertal development. The benefits of low-dose estrogen therapy in patients with Turner syndrome were originally discussed by Ross et al. and Quigley et al. These seminal studies used ethinyl estradiol (EE2), starting at a dose of 25 ng/kg/d. We hypothesized that the initial dosage of estrogen could be titrated to more closely mimic physiological increments of endogenous estrogen. Therefore, our recent study initiated EE2 treatment at a dosage of 1-2 ng/kg/d, an ultra-low-dose estrogen therapy in pediatric patients with Turner syndrome. The ultra-low-dose estrogen therapy in this syndrome produced a good final height outcome but achieved suboptimal bone mineral density (BMD). In the present review, we have explained our findings to clarify the merits and demerits of this new therapy and to promote further discussion and research. This type of ultra-low-dose estrogen therapy, initiated at an early age, could be ideal for estrogen replacement in female patients with hypogonadism, such as Turner syndrome.

11.
Congenit Anom (Kyoto) ; 60(6): 175-179, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32638418

RESUMO

Although Turner syndrome (TS) is frequently associated with congenital anomalies of the kidney-urinary tract (CAKUT), which is a major cause of pediatric chronic kidney disease, renal function in TS is usually considered normal. The present study aimed to analyze the frequency of renal dysfunction and CAKUT in pediatric patients with TS. Our study included 122 patients with TS between the ages of 2 and 18 years from 30 hospitals across Japan. Clinical data related to renal function and CAKUT were retrospectively collected. The estimated glomerular filtration rate (eGFR) was calculated using the serum creatinine-based formula recommended by the Japanese Society for Pediatric Nephrology. An eGFR <90 mL/min/1.73 m2 for two consecutive years was defined as renal dysfunction. Fifteen (13.5%) of 122 patients had CAKUT, and four patients had renal dysfunction (3.2%, 95% confidence interval: 0%-6.7%). Three of the four did not have CAKUT. Of the CAKUT manifestations, horseshoe kidney, renal hypodysplasia, and multicystic dysplastic kidney were seen in nine, two, and one patient, respectively. Eight of the nine patients with horseshoe kidney had a normal renal function; however, the remaining patient with renal hypodysplasia had renal dysfunction. A small percentage of patients with pediatric TS may had an eGFR below 90 mL/min/1.73 m2 which was not necessarily associated with CAKUT.


Assuntos
Taxa de Filtração Glomerular , Rim/anormalidades , Fenótipo , Síndrome de Turner/diagnóstico , Sistema Urinário/anormalidades , Doenças Urológicas/diagnóstico , Fatores Etários , Criança , Humanos , Testes de Função Renal , Pediatria , Estudos Retrospectivos , Síndrome de Turner/complicações , Doenças Urológicas/etiologia
13.
Intractable Rare Dis Res ; 6(3): 177-182, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28944139

RESUMO

The calcium/calmodulin-dependent serine protein kinase gene (CASK) mutations are associated with various neurological disorders; a syndrome of intellectual disability (ID) and microcephaly with pontine and cerebellar hypoplasia (MICPCH), FG syndrome, X-linked ID with/without nystagmus, epileptic encephalopathy, and autistic spectrum disorder (ASD). Next generation sequencing was performed to elucidate genetic causes in siblings exhibiting developmental disorders, and a novel CASK mutation, c.1424G>T (p.Ser475Ile), was detected in a male patient with ID, ASD, and microcephaly. Radiological examination of his brain showed no structural abnormality. The identified mutation was shared with the healthy mother and a younger sister exhibiting ASD. Although the mother showed a skewed X-chromosome inactivation (XCI) pattern, the sister showed a paradoxical XCI pattern. This would explain why this sister possessed a normal intellectual level, but showed the same ASD symptoms as the affected brother. A novel CASK mutation was identified in two siblings with ID and/or ASD, suggesting a relationship between the CASK mutation and ASD. Recently performed large molecular cohorts for patients with developmental disorders suggest that CASK is one of the genes related to developmental disorders. For better understanding of genotype-phenotype correlation in ASD cases with CASK mutations, more information should be accumulated.

15.
Thyroid ; 26(12): 1701-1705, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27762734

RESUMO

BACKGROUND: Hemizygous mutations in the immunoglobulin superfamily member 1 (IGSF1) gene have been demonstrated to cause congenital central hypothyroidism in males. This study reports a family with a novel mutation in the IGSF1 gene located on the long arm of the X chromosome. PATIENT FINDINGS: A two-month-old boy was diagnosed with central hypothyroidism because of prolonged jaundice. A thyrotropin-releasing hormone (TRH) stimulation test indicated dysfunction in both the hypothalamus and the pituitary gland, and prompted the IGSF1 gene to be analyzed. The patient had a novel nonsense variant, c.2713C>T (p.Q905X), in exon 14 of the IGSF1 gene. Studies of the family revealed that the patient's sister and mother were heterozygous carriers of the IGSF1 mutation. The patient's maternal uncle carried the same mutation as the proband but had no overt symptoms. The mother and uncle started levothyroxine supplementation because of subclinical hypothyroidism. SUMMARY: A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.


Assuntos
Hipotireoidismo Congênito/genética , Hipotireoidismo/genética , Imunoglobulinas/genética , Proteínas de Membrana/genética , Mutação , Adulto , Hipotireoidismo Congênito/tratamento farmacológico , Análise Mutacional de DNA , Terapia de Reposição Hormonal , Humanos , Hipotireoidismo/tratamento farmacológico , Lactente , Masculino , Linhagem , Tiroxina/uso terapêutico
16.
Mol Cytogenet ; 8: 54, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26213576

RESUMO

Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for gestational age and intellectual disability, and whose brain MRI later revealed periventricular heterotopia and white matter abnormalities. Mosaicism was identified in peripheral blood cells examined by standard G-bands, mos 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/46,XX,dic r(6:6)(p25q27:p25q27)[6]/47,XX,r(6)(p25q27) × 2[2]. Using array-comparative genomic hybridization, we identified terminal deletion of 6q27 (1.5 Mb) and no deletion on 6p. To our knowledge, this is the first report of periventricular heterotopia and white matter abnormalities manifested in a patient with ring chromosome 6. These central nervous system malformations are further discussed in relation to molecular genetics.

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