RESUMEN
PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
Asunto(s)
Hiperplasia Suprarrenal Congénita , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Hiperplasia Suprarrenal Congénita/genética , Estudios de Cohortes , Hipertensión/genética , Hipopotasemia/genética , Pubertad Tardía/genética , Esteroide 17-alfa-Hidroxilasa/genética , Turquía/epidemiologíaRESUMEN
The surgical outcomes of disorders on sex development (DSD) are comparatively well studied in the literature, whereas studies investigating its impacts on mental health are scarce. In this study, we aimed to evaluate psychiatric diagnoses, sex roles, quality of life, and adolescents who were surgically treated because of DSD as well as parental attitudes in their parents. The study group consisted of 19 patients diagnosed with DSD and the control group consisted of 20 age- and gender-matched healthy peers. The Kiddie-Schedule for Affective Disorders and Schizophrenia was performed by a child and adolescent psychiatrist to assess the psychiatric diagnoses. To evaluate quality of life (QoL) and sex roles, The Pediatric Quality of Life Inventory (PedsQL), and the Bem Sex Role Inventory were used, respectively. Mothers completed the PedsQL-Parent Form and the Parental Attitude Research Instrument (PARI). Of 19 children in the patient group, 14 (73.7%) had a past or current history of at least one psychiatric disorder. The most common psychiatric disorder was major depression. There was no significant difference between the two groups in terms of sex roles. A statistically significant difference was found between the study and control groups in four factor scores of the PARI. While there was no significant difference between the groups in terms of the children's QoL scores, parent-proxy reports of psychosocial health scores and total QoL scores of the study group were significantly lower than the controls. This finding shows that parents perceived the QoL of their children with DSD as worse than their healthy peers, probably due to their concerns for the future. In conclusion, it is important to identify and treat the psychiatric disorders concomitant in patients with DSD.
Asunto(s)
Conducta del Adolescente/psicología , Trastornos del Desarrollo Sexual/terapia , Adolescente , Trastornos del Desarrollo Sexual/psicología , Femenino , Humanos , Masculino , Calidad de Vida/psicología , Procedimientos Quirúrgicos Operativos/efectos adversos , Procedimientos Quirúrgicos Operativos/métodos , Procedimientos Quirúrgicos Operativos/psicologíaRESUMEN
BACKGROUND AND STUDY AIM: We evaluated exocrine pancreas functions using a noninvasive indicator in a case-control study conducted on children and adolescents diagnosed with type 1 diabetes mellitus. PATIENTS AND METHODS: Sixty-seven patients who participated in a summer camp were enrolled in this study. Nineteen healthy children in the same age group were assigned to the control group. Fecal pancreatic elastase was assayed using the enzyme-linked immunosorbent assay technique. Values higher than 200 µg/g were considered an indication of sufficient exocrine pancreatic functioning, values between 100 µg/g and 200 µg/g were considered mild exocrine pancreatic insufficiency, and values below 100 µg/g were considered severe exocrine pancreatic insufficiency. RESULTS: The mean concentration of fecal elastase was 158.38 ± 59.67 µg/g. The patients were assigned to three groups according to these values. Thirteen patients (22%) had sufficient fecal elastase levels, whereas 36 patients (62%) had mildly insufficient levels, and nine patients (16%) had severely insufficient fecal elastase concentrations. The levels of fecal elastase, amylase, lipase, and zinc were significantly different between the patients and controls (p < 0.001). Only the duration of diabetes was significantly different between patients with different severities of exocrine pancreatic insufficiency (p = 0.037). Additionally, the group with severe pancreatic insufficiency had more frequent hypoglycemic attacks. CONCLUSION: Exocrine pancreatic insufficiency may develop in children with diabetes, and hypoglycemia attacks are observed more frequently depending on the severity of pancreatic insufficiency.
Asunto(s)
Diabetes Mellitus Tipo 1 , Páncreas Exocrino , Enfermedades Pancreáticas , Adolescente , Estudios de Casos y Controles , Niño , Humanos , HipoglucemiantesRESUMEN
Objective: Iodine deficiency (ID) continues to be a problem around the world. This study investigated the prevalence of ID and goiter among school-age children in the city center of Antalya, Turkey. The aim was to investigate the effect of an iodization program, which had been running for sixteen years, on nutritional iodine status in this population. Methods: A total of 1,594 school children, aged 6-14 years, were included in this cross-sectional study. ID was evaluated based on median [interquartile range (IQR)] urine iodine/creatine (UI/Cr) (µg/g) ratio and median (IQR) UI concentrations (UIC) (µg/L). UICs were measured using the Sandell-Kolthoff method. Goiter was determined by palpation and staged according to World Health Organization classification. Results: Median (IQR) UIC was found to be 174.69 (119.17-242.83) µg/L, and UIC was found to be lower than 50 µg/L in 6.5% of the population. The median UI/Cr ratio increased from 62.3 to 163.3 µg/g and goiter rates had decreased from 34% to 0.3% over the 16 years of the program. However, 19% were still classified as ID (mild, moderate or severe) and, furthermore, 11.5% were classified as excessive iodine intake. Conclusion: Comparison of two cross-sectional studies, carried out 16-years apart, showed that Antalya is no longer an ID region. However, surveillance should be continued and the percentage of ID and iodine excess individuals in the population should be monitored to avoid emerging problems.
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Enfermedades Carenciales/dietoterapia , Enfermedades Carenciales/epidemiología , Yodo/administración & dosificación , Yodo/deficiencia , Adolescente , Niño , Estudios Transversales , Enfermedades Carenciales/prevención & control , Femenino , Bocio/epidemiología , Humanos , Masculino , Estado Nutricional , Vigilancia de la Población , Prevalencia , Cloruro de Sodio Dietético/administración & dosificación , Factores de Tiempo , Turquía/epidemiologíaRESUMEN
Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disorder due to presence of mutations in the genes involved in the metabolism of steroid hormones in adrenal gland. There are two main forms of CAH, classic form and non-classic form. While classic form stands for the severe form, the non-classic form stands for the moderate and more frequent form of CAH. The enzyme deficiencies such as 21-hydroxylase, 11-beta-hydroxylase, 3-beta-hydroxysteroid dehydrogenase, 17-alpha-hydroxylase deficiencies are associated with CAH. In this study, we aimed to investigate CYP21A2, CYP11B1, HSD3B2 genes which are associated with 21-hydroxylase, 11-beta-hydroxylase and 3-beta-hydroxysteroid dehydrogenase enzyme deficiencies, respectively, in 365 individuals by using Sanger sequencing method. We emphasized the classification of variants according their disease causing potential, and evaluated variants' frequencies including newly discovered novel variants. As a result, 32 variants of CYP21A2 including 10 novel variants, 9 variants of CYP11B1 including 3 novel variants and 6 variants of HSD3B2 including 4 novel variants were identified. The conclusions of our study showed that in Anatolia, discovery of novel variants is quite common on account of tremendous ratios of consanguineous marriages which increases the frequency of CAH. These results will contribute to the understanding of molecular pathology of the disease.
Asunto(s)
Hiperplasia Suprarrenal Congénita/genética , Progesterona Reductasa/genética , Esteroide 11-beta-Hidroxilasa/genética , Esteroide 21-Hidroxilasa/genética , 3-Hidroxiesteroide Deshidrogenasas/metabolismo , Adolescente , Adulto , Alelos , Niño , Preescolar , Bases de Datos Genéticas , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Esteroide 11-beta-Hidroxilasa/metabolismo , Esteroide 17-alfa-Hidroxilasa/metabolismo , Esteroide 21-Hidroxilasa/metabolismo , Turquía , Adulto JovenRESUMEN
Objective: Childhood obesity (OB) is an acknowledged global problem with increasing prevalence reported around the world. We conducted this study with the aim of determining the local trend in OB and overweight (OW) prevalence in the last decade and to observe the alteration of OB and OW prevalence by age group. An additional aim was to construct new age- and gender-specific body mass index (BMI) reference percentile charts for Turkish children living in the city center of Antalya. Methods: This cross-sectional study included 1687 school aged children. International Obesity Task Force guidelines were used to determine the OB and OW prevalence. OW was defined as a BMI between 85th and 95th percentile, and OB >95th percentile. The data were compared with a previous study carried out in the same region in 2003. The least mean square method was used to construct the BMI reference percentile charts. Results: The prevalence rates for OB and OW were 9.8% and 23.2%, respectively, with a combined OW/OB rate of 33%. OB prevalence was higher in boys than girls (p<0.05). The prevalence of combined OW/OB was highest at age 9-10 years. The prevalence of OB has increased 2.9 times during twelve years in this location. Conclusion: Comparing the current findings with rates of OW and OB in the previous decade, childhood OB in Antalya has reached alarming levels. Urgent measures integrated into the national education system should be taken to prevent OB. In addition more surveillance studies should be planned to show the future trend of OB prevalence nationally.
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Sobrepeso/epidemiología , Obesidad Infantil/epidemiología , Estudiantes/estadística & datos numéricos , Adolescente , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Prevalencia , Instituciones Académicas , Turquía/epidemiologíaRESUMEN
INTRODUCTION: The aim of this study was to determine alterations in axonal excitability in tibial nerve as compared with median nerve axonal excitability in patients with diabetic polyneuropathy. METHODS: Six patients with diabetic polyneuropathy and 10 patients with diabetes mellitus without polyneuropathy were enrolled. RESULTS: Compared with diabetic patients without polyneuropathy, the tibial nerve strength-duration time constant was significantly longer and supernormality was lower in those with polyneuropathy. Threshold electrotonus studies showed abnormalities in patients with diabetic polyneuropathy, in which smaller threshold changes from long-depolarizing and hyperpolarizing conditioning, termed "fanning-in," were found. DISCUSSION: This study confirms that axonal excitability is significantly altered in the tibial nerve of patients with diabetic polyneuropathy. Evaluating the axonal excitability of the median and tibial nerves may reveal the presence of length-dependent polyneuropathy at an early stage. Muscle Nerve 59:76-81, 2019.
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Axones/fisiología , Diabetes Mellitus Tipo 1/patología , Neuropatías Diabéticas/patología , Nervio Tibial/fisiopatología , Adolescente , Neuropatías Diabéticas/etiología , Electromiografía , Potenciales Evocados Motores/fisiología , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Conducción Nerviosa/fisiología , Adulto JovenRESUMEN
Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics of 3 WS patients from 3 unrelated Turkish families. Clinical characteristics of the patients and the age of onset of symptoms were quite different in each pedigree. The first two cases developed all symptoms of the disease in their first decade of life. The heterozygous father of case 2 was symptomatic with bilateral deafness. The first ocular finding of one patient (patient 3) was bilateral cataract which was accompanying DM as a first feature of the syndrome. In this patient's family, there were two members with features suggestive of WS. Previously known homozygous mutations, c.460+1G>A in intron 4 and c.1885C>T in exon 8, were identified in these cases. A novel homozygous c.2534T>A mutation was also detected in the exon 8 of WFS1 gene. Because of the rarity and heterogeneity of WS, detection of specific and nonspecific clinical signs including ocular findings and family history in non-autoimmune, insulinopenic diabetes cases should lead to a tentative diagnosis of WS. Genetic testing is required to confirm the diagnosis.
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Predisposición Genética a la Enfermedad/genética , Proteínas de la Membrana/genética , Mutación , Síndrome de Wolfram/genética , Adolescente , Secuencia de Bases , Niño , Consanguinidad , Análisis Mutacional de ADN , Exones/genética , Salud de la Familia , Femenino , Estudios de Seguimiento , Genotipo , Humanos , Intrones/genética , Biología Molecular , Turquía , Síndrome de Wolfram/diagnóstico , Adulto JovenRESUMEN
OBJECTIVE: To find out the diagnostic role of kisspeptin and neurokinin B in idiopathic central precocious puberty (ICPP) and premature thelarche (PT). METHODS: The girls who presented with early breast development before the age of 8 years were evaluated. Patients with intracranial pathologies were excluded. Basal and stimulated follicle-stimulating hormone/luteinizing hormone (LH) levels and basal neurokinin B/kisspeptin levels were measured. Patients who had peak value of LH >5 mIU/mL and a bone age (BA)/chronological age (CA) ratio >1.1 were diagnosed as central precocious puberty (CPP), while cases who did not meet these criteria were diagnosed as PT. Healthy age-matched prepubertal girls were included as the control group. RESULTS: The study group contained 25 girls with ICPP (7±0.8 years), 35 girls with PT (6.8±0.7 years), and 30 controls (6.7±0.7 years). Basal serum kisspeptin and neurokinin B levels were 2.36±0.47 ng/mL and 2.61±0.32 ng/mL, respectively in the ICPP group, 2.23±0.43 ng/mL and 2.24±0.23 ng/mL, respectively in the PT group, and 1.92±0.33 ng/mL and 2.03±0.24 ng/mL, respectively in the controls. Both kisspeptin and neurokinin B levels were higher in the ICPP and PT groups compared to controls (p<0.05). Moreover, basal neurokinin B level was different between ICPP and PT groups (p<0.01). A serum neurokinin B level of 2.42 ng/mL provided the most appropriate level to differentiate ICPP from PT, with a sensitivity of 84% and specificity of 77.1%. CONCLUSION: Differentiation of CPP from PT is sometime difficult, and there is a need for a simple method for the differential diagnosis. Our results suggest that basal serum neurokinin B level can be used as an adjunctive parameter to differentiate ICCP from PT.
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Mama/crecimiento & desarrollo , Neuroquinina B/sangre , Pubertad Precoz/sangre , Niño , Diagnóstico Diferencial , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Kisspeptinas/sangre , Hormona Luteinizante/sangre , Pubertad Precoz/diagnóstico , Curva ROCRESUMEN
Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is often missed out or delayed. Hypophosphatasia is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated with the age at diagnosis and the lack of tissue-nonspecific alkaline phosphatase activity; the severe forms of hypophosphatasia are primarily perinatal and infantile forms. Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. There is a limited number of hypophosphatasia patients with pyridoxine-responsive seizures in the literature, so early diagnosis of infantile hypophosphatasia in the clinically compatible patients allows more effective postnatal care/management and genetic counseling for further pregnancies.
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Fosfatasa Alcalina/genética , Hipofosfatasia/genética , Mutación , Piridoxina/uso terapéutico , Convulsiones/prevención & control , Calcitonina/uso terapéutico , Diuréticos/uso terapéutico , Femenino , Furosemida/uso terapéutico , Homocigoto , Humanos , Hipofosfatasia/complicaciones , Hipofosfatasia/tratamiento farmacológico , Recién Nacido , Convulsiones/complicaciones , Cloruro de Sodio/uso terapéutico , Resultado del Tratamiento , Complejo Vitamínico B/uso terapéuticoRESUMEN
OBJECTIVE: Noonan syndrome (NS) is a multisystem disorder, and short stature is its most striking manifestation. Optimal growth hormone (GH) treatment for NS is still controversial. In this study, using a nationwide registration system, we aimed to evaluate the growth characteristics and the clinical features of NS patients in Turkey and their growth response to GH treatment. METHODS: Children and adolescents with a diagnosis of NS were included inthe study. Laboratory assessment including standard GH stimulation test results were evaluated. Height increment of patients with or without GH treatment were analyzed after three years of therapy. RESULTS: A total of 124 NS patients from different centers were entered in the web-based system. Short stature and typical face appearance were the most frequently encountered diagnostic features of our patients. Of the 84 patients who were followed long-term, 47 hadreceived recombinant human GH (rhGH). In this group of 47 patients, height standard deviation score (HSDS) increased from -3.62±1.14 to -2.85±0.96 after three years of therapy, indicating significant differences from the patients who did not receive GH treatment. PTPN11 gene was analyzed in 61 patients, and 64% of these patients were found to have a mutation. HSDS at admission was similar in patients with or without PTPN11 gene mutation. CONCLUSION: A diagnosis of NS should be kept in mind in all patients with short stature showing systemic clinical findings. GH therapy is effective for improvement of short stature especially in the first two years of treatment. Further studies are needed for optimisation of GH therapy and evaluation of final height data in NS patients.
Asunto(s)
Estatura/efectos de los fármacos , Trastornos del Crecimiento/tratamiento farmacológico , Hormona de Crecimiento Humana/uso terapéutico , Síndrome de Noonan/tratamiento farmacológico , Adolescente , Análisis de Varianza , Estatura/fisiología , Niño , Preescolar , Femenino , Estudios de Seguimiento , Trastornos del Crecimiento/fisiopatología , Humanos , Lactante , Recién Nacido , Masculino , Síndrome de Noonan/fisiopatología , Resultado del Tratamiento , TurquíaRESUMEN
The aim of this study was to determine circulating omega-6, omega-3 polyunsaturated fatty acids and prostaglandin E2 (PGE2) levels in steady state sickle cell disease (SCD) patients. Blood was collected from healthy hemoglobin volunteers and steady state homozygous HbSS patients who had not received blood transfusions in the last 3 months. Plasma levels of arachidonic acid (AA, C20:4n-6), dihomo-gamma-linolenic acid (DGLA, C20:3n-6), eicosapentaenoic acid (EPA, C20:5n-3) and docosahexaenoic acid (DHA, C22:6n-3) were determined by an optimized multiple reaction monitoring method using ultrafast liquid chromatography coupled with tandem mass spectrometry. PGE2 was measured in serum samples by enzyme immunoassay. Plasma AA and DGLA were significantly increased while EPA and DHA were significantly decreased in SCD plasma compared to control. Serum PGE2 levels, AA/DHA and AA/EPA ratio was significantly higher in SCD patients when compared to control group. The significant increase in PGE2 levels, AA/EPA and AA/DHA ratio confirms the presence of a proinflammatory state in SCD patients.
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Anemia de Células Falciformes/patología , Dinoprostona/sangre , Ácidos Grasos Omega-3/sangre , Ácidos Grasos Omega-6/sangre , Plasma/química , Adolescente , Adulto , Niño , Preescolar , Cromatografía Liquida , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Masculino , Espectrometría de Masas en Tándem , Adulto JovenRESUMEN
This study aimed to determine the effect of haemolysis on plasma oxidation and nitration in sickle cell disease (SCD) patients. Blood was collected from haemoglobin (Hb)A volunteers and homozygous HbSS patients who had not received blood transfusions in the last 3 months. Haemolysis was characterised by low levels of haemoglobin and haptoglobin and high levels of reticulocyte, mean corpuscular volume (MCV), mean corpuscular haemoglobin (MCH), plasma cell-free haemoglobin, bilirubin, total lactate dehydrogenase (LDH) and dominance of LDH-1 isoenzyme. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were measured to evaluate oxidised lipids, oxidised and nitrated proteins, respectively. Plasma nitrite-nitrate levels were also determined to assess nitric oxide (NO) production in both SCD patients and controls. Markers of haemolysis were significantly evident in SCD patients compared to controls. Plasma 8-isoprostane, protein carbonyl and nitrotyrosine levels were markedly elevated in SCD patients compared to controls. Linear regression analysis revealed a significant inverse correlation between haemoglobin and reticulocyte counts and a significant positive correlation of plasma cell-free haemoglobin with protein carbonyl and nitrotyrosine levels. The obtained data shows that increased haemolysis in SCD increases plasma protein oxidation and nitration.