RESUMEN
OBJECTIVE: To assess the incidence of T1D in children aged <15 years in Elazig, Turkey. METHOD: The data of children who have been registered as child with T1D in the database of pediatric diabetes clinic was analyzed. Childhood census data were acquired from the Turkish Statistical Institute. The incidence rates of T1D were calculated for the whole group as well as separately for age group, gender, year of diagnosis, and place of residence, viz. either urban or rural per 100 000 persons per year. The change of incidence during the 10 year observation period was analyzed. RESULTS: The overall mean incidence of T1D in study period was 16.7/100 000 [95% confidence interval (CI): 14.6-19.0] persons per year. The incidence rates of T1D varied from 10.2 to 24.1/100 000 persons per year, representing 2.4-fold variation between 2009 and 2019. The lowest incidence rate was in children aged 0 to 4 years (9.6/100 000 persons per year; CI: 6.9-12.9). There was no difference in incidence rate between genders, incidence rates was significant higher in urban residents. A significant increasing trend of T1D was detected in the total 10-year observation period; the average annual percent change was 7.8%. Subgroup analysis showed that there was significant increasing trend in boys, urban residents, and children aged 5 to 9 years groups. CONCLUSION: This study demonstrated increase in T1D incidence of in children in Elazig and highest regional incidence rate of T1D until now in Turkey compared to previous limited data.
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Diabetes Mellitus Tipo 1/epidemiología , Adolescente , Edad de Inicio , Niño , Preescolar , Femenino , Historia del Siglo XXI , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Turquía/epidemiologíaRESUMEN
BACKGROUND This study aimed to determine the frequency and duration of remission in children and adolescents newly diagnosed with type 1 diabetes and to investigate factors associated with these parameters. MATERIAL AND METHODS Fifty patients newly diagnosed with T1DM were followed for 1 year. Daily insulin requirement of less than 0.5 U/kg/day dose when the HbA1c value is less than 8% was regarded as partial remission. Patients were grouped according to their remission duration. Clinical and laboratory characteristics of the remission groups and non-remission groups were compared to find factors influencing remission and to investigate their contribution to the duration of remission. RESULTS Remission was observed in 24 (48%) out of 50 patients included in the study. Remission frequency was found to be associated with age, sex, and puberty. Longer duration of remission was more frequent in the younger age group, in pre-pubertal stage, and in male patients. Daily insulin dose and basal insulin requirement of those who went into remission was found to be significantly lower than in the other patients at discharge. CONCLUSIONS Decreased daily total and basal insulin requirement at discharge are valuable in predicting remission. The remission process in type 1 diabetes still has many characteristics that need to be clarified. Therefore, more extensive studies are needed.
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Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/rehabilitación , Adolescente , Factores de Edad , Glucemia/análisis , Péptido C/análisis , Péptido C/sangre , Niño , Diabetes Mellitus Tipo 1/fisiopatología , Supervivencia sin Enfermedad , Femenino , Hemoglobina Glucada/análisis , Humanos , Insulina/uso terapéutico , Masculino , Inducción de Remisión , Remisión Espontánea , Factores Sexuales , Maduración Sexual , Factores de TiempoRESUMEN
BACKGROUND The present study investigated the relationship between detection of organic pathologies with magnetic resonance imaging of the pituitary gland, clinical and laboratory findings, and treatment response. MATERIAL AND METHODS The study included a total of 183 patients who had isolated growth hormone deficiency, received at least 1 year of treatment, returned regularly for follow-ups, and whose pituitary magnetic resonance images were available. The patients were divided into 2 groups: those with and without pathological evidence with magnetic resonance imaging. Clinical and laboratory features and treatment responses were compared between patients with and without pathological evidence with magnetic resonance imaging. RESULTS Of the 183 patients, 105 were females and 78 were males, and 114 patients (62.2%) were prepubertal and 69 patients (37.8%) were pubertal. Their mean age was 10.01±3.25 years (1-17.6 years). Pituitary images of 153 (83.6%) patients were normal. Of the patients with detected pathologies (16.4%), 19 (10,4%) had pituitary hypoplasia, 5 (2.7%) had partial empty sella, 3 (1.7%) had ectopic neurohypophysis and 3 (1.7%) had empty sella, pineal, and arachnoid cyst. A statistically significant increase was observed in the height increase rate after treatment compared to before treatment in both groups (p<0.001). However, the group with pathology had a statistically significant (p=0. 007) post-treatment increase height rate. Although in the group with pathology there was a lower L-DOPA and clonidine peak GH response, there was not any statistically significant difference between the 2 groups (p=0.051, p=0.113). Pituitary gland length was also shorter in the group with pathology compared to the group without pathology (P<0.001). CONCLUSIONS Magnetic resonance imaging is a useful tool in assessing GH deficiency pathogenesis and in predicting treatment response.
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Hipófisis/diagnóstico por imagen , Hipófisis/patología , Displasia Septo-Óptica/diagnóstico por imagen , Adolescente , Biomarcadores Farmacológicos , Estatura , Niño , Preescolar , Enanismo Hipofisario/diagnóstico por imagen , Enanismo Hipofisario/fisiopatología , Femenino , Hormona del Crecimiento/deficiencia , Humanos , Sistema Hipotálamo-Hipofisario , Lactante , Imagen por Resonancia Magnética/métodos , Masculino , Sistema Hipófiso-SuprarrenalRESUMEN
Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS. We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.
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Proteínas de Unión al ADN/genética , Síndrome de Kallmann/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Factores de Transcripción/genética , Adolescente , Adulto , Animales , Axones/metabolismo , Axones/patología , Encéfalo/metabolismo , Encéfalo/patología , Niño , Familia , Femenino , Hormona Liberadora de Gonadotropina/metabolismo , Humanos , Hipogonadismo , Sistema Hipotálamo-Hipofisario , Masculino , Ratones , Neuronas Receptoras Olfatorias/metabolismo , Neuronas Receptoras Olfatorias/patología , Linaje , Estudios Prospectivos , Proteínas Represoras , Adulto JovenRESUMEN
Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.
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Síndrome de Alstrom/genética , Consanguinidad , Estudios de Asociación Genética , Adolescente , Síndrome de Alstrom/patología , Proteínas de Ciclo Celular , Estudios de Cohortes , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Mutación , Linaje , Isoformas de Proteínas/genética , Proteínas/genética , TurquíaRESUMEN
AIM: The negative effect of antiepileptic drugs on bone health has been previously documented. However, which antiepileptic drug is safer in regard to bone health is still questionable. Our aims were to investigate the bone mineral density alterations in pediatric patients who receive antiepileptic medication for a minimum of two years and to compare the results of these drugs. MATERIALS AND METHODS: Fifty-nine patients (32 males, 27 females; mean age: 8.6±4.6years) and a control group (13 males, 7 females; mean age: 7.6±3.3years) were included in the study. The patients were receiving necessarily the same antiepileptic drugs (AEDs) for at least two years, and none of the patients had mental retardation or cerebral palsy. The patients were divided into three groups: group 1 (patients receiving levetiracetam (LEV), n=20), group 2 (patients receiving carbamazepine (CBZ), n=11), and group 3 (patients receiving valproic acid (VPA), n=28). Plasma calcium (Ca), phosphorus (P), parathyroid hormone (PTH), alkaline phosphatase (ALP), vitamin D levels, and bone mineral density (BMD) values of femur and vertebras (L1-4) and z-scores (comparative results of BMD values of the patients with the age- and gender-matched controls in device database) of the groups were compared. RESULTS: The differences between P, PTH, ALP and age, Ca and BMD results, and vitamin D levels of the patients in all four groups was not statistically significant according to Kruskal-Wallis test (p>0.05). The z-score levels of all the patient and control groups were also not statistically significantly different compared with each other. CONCLUSION: In contrast to previous reports in pediatric patients, our study has documented that there is not a considerable bone loss in patients receiving long-term AED medication. Although levetiracetam has been proposed as bone-protecting medication, we did not observe any difference between AEDs regarding bone mineral density after two years of treatment.
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Anticonvulsivantes/efectos adversos , Densidad Ósea/efectos de los fármacos , Carbamazepina/efectos adversos , Piracetam/análogos & derivados , Ácido Valproico/efectos adversos , Fosfatasa Alcalina/sangre , Anticonvulsivantes/uso terapéutico , Calcio/sangre , Carbamazepina/uso terapéutico , Niño , Preescolar , Femenino , Humanos , Levetiracetam , Masculino , Hormona Paratiroidea/sangre , Fósforo/sangre , Piracetam/efectos adversos , Piracetam/uso terapéutico , Ácido Valproico/uso terapéutico , Vitamina D/sangreRESUMEN
PURPOSE: The aim of the presented study was to evaluate the prevalence of isolated hyperthyrotropinemia (IH) in obese children and the relation between anthropometric and metabolic parameters. METHODS: Hospital records of the children, who presented to the Pediatric Endocrinology outpatient clinic of our institution with obesity, and age and gender-matched healthy children, who had undergone thyroid function test for any reason were retrospectively reviewed. RESULTS: The prevalence of IH was significantly higher in the obese group than in the controls (9.2 and 3.8 %, respectively). Body mass index-standard deviation score (BMI-SDS), thyroid-stimulating hormone (TSH), lipid parameters were significantly different in the obese group than in the control group. A positive correlation between TSH and BMI-SDS and negative correlation between TSH and free T4 (fT4) levels were found in obese subjects. Stepwise multiple linear regression analysis confirmed that BMI-SDS, fT4 and triglyceride levels were the strongest independent variables correlated with TSH level in obese subjects (r (2) = 0.046, p = 0.001). CONCLUSIONS: IH prevalence is higher in obese children as compared to healthy children and the increase in TSH level correlates negatively with serum fT4 and positively with BMI-SDS and triglyceride levels in obese children.
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Índice de Masa Corporal , Dextrotiroxina/sangre , Obesidad Infantil/metabolismo , Tirotropina/sangre , Triglicéridos/sangre , Adolescente , Niño , Femenino , Humanos , Masculino , Obesidad Infantil/sangre , Estudios Retrospectivos , Pruebas de Función de la TiroidesAsunto(s)
Adenocarcinoma Folicular/complicaciones , Adenocarcinoma Folicular/diagnóstico , Síndrome de Hamartoma Múltiple/complicaciones , Síndrome de Hamartoma Múltiple/diagnóstico , Neoplasias de la Tiroides/complicaciones , Adenocarcinoma Folicular/terapia , Adolescente , Estudios de Seguimiento , Predisposición Genética a la Enfermedad , Síndrome de Hamartoma Múltiple/genética , Humanos , Masculino , Monoéster Fosfórico Hidrolasas/metabolismo , Enfermedades Raras , Medición de Riesgo , Pruebas de Función de la Tiroides , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/terapia , Resultado del TratamientoRESUMEN
BACKGROUND: The aim of this study was to determine the individual and familial factors associated with metabolic control in children with type 1 diabetes (T1DM). METHODS: The study was performed in 93 children with T1DM between the ages of 3 and 19 years. Children and their families completed questionnaires on sociodemographics and data associated with diabetes. Medical information from the charts was also recorded. RESULTS: Older age, longer diabetes duration and higher hospitalization rate for acute complications were positively associated with poor metabolic control. Good school performance, regular hospital visits, young maternal age, high paternal education level and fewer numbers of siblings were found to be negatively associated with poor metabolic control. CONCLUSIONS: Multiple individual and family-level factors are associated with metabolic control. These data may aid in identification of diabetic children and adolescents who have a higher risk of poor metabolic control.
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Diabetes Mellitus Tipo 1/metabolismo , Diabetes Mellitus Tipo 1/terapia , Adolescente , Glucemia/análisis , Niño , Preescolar , Familia , Femenino , Humanos , Masculino , Adulto JovenRESUMEN
This study was designed to assess the effect of recombinant human growth hormone (rhGH) therapy on left-ventricular (LV) chamber size and function in children with idiopathic isolated growth hormone deficiency (GHD) using conventional echocardiography and tissue Doppler imaging (TDI). Thirty patients (19 boys and 11 girls) with idiopathic isolated GHD were followed-up for 12 months. Mean age of patients was 11.0 ± 2.6 years (range 6.3-15.5). At baseline and at 3, 6, and 12 months of treatment, the structure of the left ventricle was assessed by conventional echocardiography and myocardial rates and time intervals by TDI. There was a significant increase in LV mass (LVM) compared with pretreatment values. Like LVM, relative wall thickness (RWT) was also increased significantly. The significant increase in LVM indexed to body surface area and RWT became apparent at month 3 of treatment with a significant increase in LVM indexed to height(2.7) at treatment month 6. Normalized LVM increased as early month 3 of treatment, and a steady increase was observed until month 12. However, no patient had LVM > +2 standard deviation scores at month 12 of treatment. No significant differences were observed in functional parameters of the left ventricle and the interventricular septum. The results of this study showed that rhGH therapy causes an increase in myocardial mass without changing the geometry or function of the myocardium. Therefore, the increase in myocardial mass appears to be concentric, thus causing remodeling instead of hypertrophy.
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Enanismo Hipofisario/tratamiento farmacológico , Ecocardiografía Doppler , Ventrículos Cardíacos/efectos de los fármacos , Terapia de Reemplazo de Hormonas/métodos , Hormona de Crecimiento Humana/uso terapéutico , Función Ventricular Izquierda/efectos de los fármacos , Adolescente , Niño , Estudios Transversales , Enanismo Hipofisario/fisiopatología , Femenino , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/fisiopatología , Humanos , Masculino , Proteínas Recombinantes , Resultado del TratamientoRESUMEN
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Müllerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.
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Trastornos del Desarrollo Sexual 46, XX/diagnóstico , Anomalías Múltiples/diagnóstico , Anomalías Congénitas/diagnóstico , Enfermedades Renales/congénito , Riñón/anomalías , Conductos Paramesonéfricos/anomalías , Ovario/anomalías , Niño , Femenino , Humanos , Enfermedades Renales/diagnóstico , Imagen por Resonancia Magnética , Ovario/patología , Pronóstico , Somitos/anomalías , Columna Vertebral/anomalías , Útero/anomalías , Vagina/anomalíasRESUMEN
OBJECTIVES: The aim of this study is to determine the plasma free carnitine and acyl-carnitine levels at the time of diabetic ketoacidosis (DKA) diagnosis, and at the end of DKA treatment and to investigate their association with the duration of DKA treatment in children with DKA. METHODS: A total of 40 children with DKA who were treated consecutively in a tertiary health center for DKA were included in the study. The median age of the children was 11.3 years (1.1-17.5) and 25 of them (62.5%) were girls. In addition to routine blood tests, plasma free carnitine and acyl-carnitine levels were measured just before the start of intravenous insulin therapy and at the time of discontinuation of intravenous insulin therapy when DKA therapy was completed. RESULTS: There was no difference in plasma free carnitine and acyl-carnitine levels before and after DKA treatment (p=0.776 and p=0.743 respectively). However, while the frequency of low plasma free carnitine was 30% at the beginning of the treatment, it was observed that this frequency was 20% at the end of the DKA treatment. There was no correlation between duration of DKA treatment and plasma free carnitine or acyl-carnitine levels at admission (p=0.497, r=-0.111 and p=0.474, r=0.116 respectively). CONCLUSIONS: There is no a relationship between duration of DKA treatment and plasma free carnitine or acyl-carnitine level at admission in children with DKA.
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Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Niño , Femenino , Humanos , Masculino , Cetoacidosis Diabética/etiología , Cetoacidosis Diabética/terapia , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Insulina , CarnitinaRESUMEN
BACKGROUND: Corona virus disease 2019 (COVID-19) includes a wide range of diseases with varying pathophysiology in children and adults. Although the disease mainly affects the respiratory tract, neurological involvement is also reported in the literature. The most common neurological complaints due to COVID-19 are headache, dizziness and anosmia. Acute necrotizing myelitis, acute demyelinating encephalomyelitis (ADEM), acute axonal neuropathy, acute transverse myelitis, and Guillian-Barre syndrome have been reported as neurological dysfunctions associated with COVID-19. CASE: A ten-year-old male patient presented with complaints of fever, headache and generalized muscle pain. The patient developed inability to walk and significant muscle weakness during the disease course, and he was diagnosed with ADEM and transverse myelitis on magnetic resonance imaging (MRI). As the etiological agent, COVID-19 was detected in both the respiratory panel sample and the cerebrospinal fluid (CSF) sample by the polymerase chain reaction (PCR) technique. Pulse steroid, IVIG, and plasmapheresis treatment were administered. He started to stand with support during follow-up. CONCLUSION: We presented a case of COVID-19 related ADEM and transverse myelitis who responded to pulse steroid, IVIG, and plasmapheresis.
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COVID-19 , Encefalomielitis , Mielitis Transversa , Adulto , COVID-19/complicaciones , Niño , Encefalomielitis/complicaciones , Encefalomielitis/diagnóstico , Encefalomielitis/terapia , Cefalea , Humanos , Imagen por Resonancia Magnética , Masculino , Mielitis Transversa/diagnóstico , Mielitis Transversa/etiología , Mielitis Transversa/terapiaRESUMEN
Diazoxide is the main therapeutic agent for persistent hyperinsulinemic hypoglycemia. Generally, it is tolerated well, but rarely it can cause severe life-threatening complications. We report a neonate who was treated with diazoxide for hyperinsulinemic hypoglycemia. On the 6th day of the treatment we observed sepsis-mimicking symptoms, mild pulmonary hypertension, and re-opening of the ductus arteriosus. All these findings resolved dramatically shortly after discontinuation of treatment. To our knowledge, this is the first reported case of re-opening of the ductus arteriosus due to diazoxide toxicity.
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Diazóxido/efectos adversos , Conducto Arterioso Permeable/inducido químicamente , Hipertensión Pulmonar/inducido químicamente , Diagnóstico Diferencial , Diazóxido/uso terapéutico , Humanos , Hiperinsulinismo/tratamiento farmacológico , Hiperinsulinismo/fisiopatología , Hipoglucemia/etiología , Hipoglucemiantes/efectos adversos , Hipoglucemiantes/uso terapéutico , Recién Nacido , Masculino , Recurrencia , Sepsis/diagnóstico , Índice de Severidad de la Enfermedad , Resultado del TratamientoRESUMEN
In children with untreated hypothyroidism, the onset of puberty is usually delayed, but gonadotropin-independent precocious puberty may occur in children with severe hypothyroidism of long duration. The association of hypothyroidism, delayed bone age and gonadotropin-independent precocious puberty is defined as Van Wyk Grumbach syndrome (VWGS). VWGS has been described mostly in girls, and only seldom in boys. The manifestation of VWGS in boys is only testicular enlargement without substantial Leydig cell stimulation or testosterone secretion. We report a case of testicular enlargement due to obvious hypothyroidism secondary to autoimmune thyroiditis in a boy who presented with obesity. With this case report, we would like to emphasize that VWGS is not a real gonadotropin- independent precocious puberty in boys as it is in girls. Additionally, we would like to emphasize that delayed bone age is a special discriminating feature for differentiation of VWGS from the other causes of precocious puberty.
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Hipotiroidismo/complicaciones , Pubertad Precoz/diagnóstico , Pubertad Precoz/etiología , Testículo/patología , Niño , Humanos , MasculinoRESUMEN
The aim of this cross-sectional study was to investigate the frequency of decreased areal bone mineral density (aBMD) among patients with cerebral palsy (CP), as estimated by using various aBMD Z-score adjustment methods. In addition, this study examined factors related to decreased aBMD scores. One hundred and two children between the ages of 3.2 and 17.8 years were examined. In patients with severe CP, the incidences of decreased aBMD according to various adjusting methods based on decimal age, bone age, height age, and height-for-age Z-score (HAZ) were 79.5%, 69.5%, 51.9%, and 38.3%, respectively. Abnormal levels of calcium, phosphorus, alkaline phosphatase, parathyroid hormone, or anticonvulsant were not predictive for a decreased aBMD. Mean aBMD Z-scores were significantly lower in all aBMD Z-score adjustment methods in patients with severe CP compared to patients with mild-to-moderate CP, except for the adjustment method based on HAZ.
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Densidad Ósea , Parálisis Cerebral/fisiopatología , Adolescente , Antropometría , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
Prasad's syndrome is characterized by geophagia, growth retardation, hypogonadism, and zinc deficiency. We report a 15-year-old boy whose medical history and clinical and laboratory findings were fully compatible with Prasad's syndrome. In addition to severe growth retardation and pubertal delay, iron deficiency anemia and zinc deficiency were determined. His gliadin and endomysium antibodies were negative. The thyroid hormone levels were in normal range but basal gonadotropins and testosterone levels were low for his age. Detailed endocrinological evaluation revealed growth hormone deficiency and hypogonadotropic hypogonadism. Pituitary gland magnetic resonance imaging revealed pituitary hypoplasia. In our opinion, before the diagnosis of Prasad's syndrome, endocrine evaluation should be done in these patients and hypopituitarism should be ruled out. Hypogonadotropic hypogonadism and growth hormone deficiency may be masked by Prasad's syndrome.
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Anemia Ferropénica/diagnóstico , Trastornos del Crecimiento/diagnóstico , Hipopituitarismo/diagnóstico , Pubertad Tardía/diagnóstico , Adolescente , Diagnóstico Diferencial , Humanos , Masculino , SíndromeRESUMEN
Infantile malignant osteopetrosis is a rare and genetically autosomal recessive disease characterized by osteoclast malfunction. Decreased osteoclast-mediated bone resorption may be inadequate to maintain a normal serum calcium-phosphorus balance in the extracellular fluid. Consequently, despite markedly positive total body calcium balance, patients with osteopetrosis paradoxically could develop rickets. The concurrence of osteopetrosis and rickets has been termed "osteopetrorickets". We report here a 3-month-old boy who was diagnosed with osteopetrorickets with clinical features. Although osteopetrorickets is defined as a rare paradoxical feature of infantile malignant osteopetrosis in some studies, it seems to be more common than was previously known. Coexistence of rickets and osteopetrosis may have adverse effects on clinical response to stem cell transplantation. Therefore, a diagnosis of rickets must be considered in patients with osteopetrosis and then for better results, prior to the SCT, the rickets should be completely treated.