RESUMEN
OBJECTIVES: L-Thyroxine ingestion is rarely seen in children; here, we report our experience of it. This study describes the clinical characteristics and laboratory findings of acute L-thyroxine ingestion in children. METHODS: This retrospective study enrolled patients treated for L-thyroxine ingestion at Kayseri Teaching Hospital between September 2013 and September 2016. Clinical characteristics and laboratory findings are described. Ethical approval was not obtained because the study was retrospective. RESULTS: The incidence of L-thyroxine ingestion was 0.07% to 1.2% per year. There were 14 patients. Twelve patients were asymptomatic, but 2 (14.2%) exhibited tachycardia and hypertension. Thyroid hormone levels were elevated in 3 patients (21.4%). Eleven patients did not require medical treatment (78.4%); 3 did. No serious complication or death was observed. CONCLUSIONS: Acute ingestion has a benign course. Serious complications are uncommon but may appear several hours or days after ingestion; therefore, patients with L-thyroxine ingestion should be followed closely for 2 weeks.
Asunto(s)
Tiroxina/envenenamiento , Sobredosis de Droga/epidemiología , Femenino , Hospitalización/estadística & datos numéricos , Humanos , Hipertensión/etiología , Masculino , Taquicardia/etiología , Hormonas Tiroideas/sangreRESUMEN
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.
Asunto(s)
Hormona de Crecimiento Humana/uso terapéutico , Cumplimiento de la Medicación , Adolescente , Niño , Femenino , Crecimiento/efectos de los fármacos , Hormona de Crecimiento Humana/deficiencia , Humanos , Factor I del Crecimiento Similar a la Insulina/análisis , MasculinoRESUMEN
To compare the corneal biomechanical properties in children with type 1 diabetes mellitus (DM) and healthy children. In this cross-sectional study, the study and control groups were composed of 68 children with DM and 74 healthy children, respectively. The corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were measured with the ocular response analyzer (ORA). Associations between ocular and diabetic parameters were also evaluated. There were no statistically significant differences between the two groups in age or gender distribution. The mean CH was 10.8 ± 1.5 and 10.7 ± 1.7 mmHg while the mean CRF was 10.9 ± 1.9 and 10.5 ± 1.6 mmHg in the diabetic group and control group, respectively. The mean IOPg was 15.9 ± 3.7 and 15.2 ± 3.4 mmHg, and the mean IOPcc was 15.8 ± 3.0 and 15.3 ± 3.4 mmHg in the diabetic and control group, respectively. There were no statistically significant differences between the two groups for CH, CRF, IOPg, and IOPcc measurements (independent t test, p = 0.624, p = 0.207, p = 0.263, p = 0.395, respectively). This study shows that type 1 DM does not have any effect on the corneal biomechanical parameters in childhood.
Asunto(s)
Diabetes Mellitus Tipo 1/fisiopatología , Adolescente , Adulto , Distribución por Edad , Fenómenos Biomecánicos/fisiología , Estudios de Casos y Controles , Niño , Estudios Transversales , Femenino , Humanos , Presión Intraocular/fisiología , Masculino , Análisis de Regresión , Distribución por Sexo , Adulto JovenRESUMEN
OBJECTIVE: There are a few studies regarding the prevalence of testicular adrenal rest tumours (TARTs) in boys and adolescent males with congenital adrenal hyperplasia (CAH), and there is little information regarding the treatment outcomes in patients with TARTs. The aim of this study was to determine the long-term treatment outcomes in boys and adolescent males with CAH. PATIENTS AND METHODS: Sixty boys and adolescent males with CAH, who were between 2 and 18 years of age, were included in the study. Fifty-five patients had 21-hydroxylase deficiency (21-OHD), and five patients had 11-ß hydroxylase deficiency (11ß-OHD). All patients were screened for TARTs by scrotal ultrasonography (US) performed by an experienced radiologist. RESULTS: TART prevalence was 18·3% in 2-18 years' of age; eight patients had 21-OHD, and three had 11ß-OHD. The youngest patient with TART was 4 years old, whereas eight patients with RTs were at puberty. Only two patients had tight metabolic control: eight patients had stage 2, one had stage 4, and two had stage five rest tumours. In four patients with stage 2 TARTs, tumours disappeared after high-dose steroid treatment and did not recur. Shrinkage of tumour was observed in two patients. Testis-sparing surgery was performed in one patient with stage five tumour. Gonadal functions were normal in patients with partially regressed tumours. Two patients became fathers of healthy male off-springs. CONCLUSIONS: Detection and treatment for TARTs in children with CAH at younger ages, earlier stages, may prevent infertility in adulthood. Therefore, we recommend that scrotal US screening should be performed in every 1-2 years starting from early childhood.
Asunto(s)
Hiperplasia Suprarrenal Congénita/epidemiología , Tumor de Resto Suprarrenal/epidemiología , Adolescente , Niño , Humanos , MasculinoRESUMEN
OBJECTIVE: In this study, we aimed to investigate the genetic background of thyroid dyshormonogenesis (TDH). CONTEXT: Thyroid dyshormonogenesis comprises 10-15% of all cases of congenital hypothyroidism (CH), which is the most common neonatal endocrine disorder, and might result from disruptions at any stage of thyroid hormone biosynthesis. Currently seven genes (NIS, TPO, PDS, TG, IYD, DUOX2 and DUOXA2) have been implicated in the aetiology of the disease. DESIGN: As TDH is mostly inherited in an autosomal recessive manner, we planned to conduct the study in consanguineous/multi-case families. PATIENTS: One hundred and four patients with congenital TDH all coming from consanguineous and/or multi-case families. MEASUREMENTS: Initially, we performed potential linkage analysis of cases to all seven causative-TDH loci as well as direct sequencing of the TPO gene in cases we could not exclude linkage to this locus. In addition, in silico analyses of novel missense mutations were carried out. RESULTS: TPO had the highest potential for linkage and we identified 21 TPO mutations in 28 TDH cases showing potential linkage to this locus. Four of 10 distinct TPO mutations detected in this study were novel (A5T, Y55X, E596X, D633N). CONCLUSIONS: This study underlines the importance of molecular genetic studies in diagnosis, classification and prognosis of CH and proposes a comprehensive mutation screening by new sequencing technology in all newly diagnosed primary CH cases.
Asunto(s)
Hipotiroidismo Congénito/genética , Consanguinidad , Yoduro Peroxidasa/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Mutación Missense , Pakistán , Hormonas Tiroideas/biosíntesis , Hormonas Tiroideas/genética , TurquíaRESUMEN
A direct effect of obesity on myocardial function has not been not well established. Our aim was to investigate the effect of body mass index (BMI) and homeostatic model assessment of insulin resistance (HOMA-IR) on left-ventricular (LV) myocardial function in normotensive overweight and obese children by tissue Doppler imaging (TDI). We calculated the mitral annular displacement index (DI) and myocardial performance index (MPI) using TDI indices of systolic and diastolic LV function. In this hospital-based, prospective cross-sectional study, we studied 60 obese (mean age 13.2 ± 2.0 years) and 50 normal children. Subjects were divided into three groups: group 1 (BMI < 25, n = 50, control), group 2 (BMI 25-29.9 kg/m(2), n = 30, overweight), and group 3 (BMI ≥ 30 kg/m(2), n = 30, morbidly obese). Standard echocardiography showed increased LV diameters and LV mass/index and preserved ejection fraction in obese children. By TDI, LV systolic and diastolic function showed that peak late myocardial velocity (Em = 15.4 ± 2 cm/s), peak early myocardial velocity (Am = 8.7 ± 1.3 cm/s), Em/Am ratio (1.8 ± 0.3), isovolumetric relaxation time (IVRT = 59.2 ± 8.2 ms), MPI (0.39 ± 0.03), and DI (25.5 ± 3.2 %) of the lateral mitral annulus in the obese subgroups were significantly different from those of control subjects (18.2 ± 1.2 cm/sn, 6.9 ± 0.6 cm/sn, 2.6 ± 0.2, 51.2 ± 9.6 ms, 0.34 ± 0.03, and 33.13 ± 5.0 %, respectively; p < 0.001). These structural and functional abnormalities were significantly related to BMI. There were positive correlations between HOMA-IR, septal MPI, and LV mass. DI and MPI data indicated impaired subclinical LV function in all grades of isolated obesity at a preclinical stage. Insulin resistance and BMI correlated significantly with indices of LV function.
Asunto(s)
Diagnóstico Precoz , Ecocardiografía Doppler/métodos , Obesidad Mórbida/complicaciones , Disfunción Ventricular Izquierda/diagnóstico por imagen , Función Ventricular Izquierda/fisiología , Adolescente , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Obesidad Mórbida/fisiopatología , Estudios Prospectivos , Reproducibilidad de los Resultados , Factores de Tiempo , Disfunción Ventricular Izquierda/etiología , Disfunción Ventricular Izquierda/fisiopatologíaRESUMEN
BACKGROUND: Obesity is a worldwide epidemic. In recent years, increasing attention has been focused on thyroid function in obesity. OBJECTIVES: To establish the prevalence of elevated thyroid-stimulating hormone (TSH) levels in obese children and adolescents, and identify the relationship between TSH levels and other metabolic and hormonal variables before and after weight reduction. MATERIALS AND METHODS: We evaluated 150 obese subjects (aged 3-17 years) for anthropometric, biochemical, metabolic and hormonal variables. Measurements were taken at baseline and, in a subgroup of children with hyperthyrotropinemia, after a 6-month intervention program based on exercise, behavior therapy, and nutrition education. RESULTS: At baseline, 23 participants (15.3 %) had hyperthyrotropinemia, and 21 of these patients completed the weight reduction intervention. Among these 21 patients, 14 had substantial weight loss and a significant decrease in TSH and free T3 levels. CONCLUSION: We conclude that TSH and T3 levels are significantly increased in childhood obesity; in most cases, however, these increases cannot be elucidated by thyroid autoimmunity or iodine deficiency. If thyroid disorders are excluded beforehand, an elevated TSH with normal thyroid hormone levels in obese children seems rather a consequence than a cause of obesity since weight loss leads to a normalization of elevated TSH levels. In this context, thyroid hormone alterations in obesity suggest an adaptation process.
Asunto(s)
Obesidad/sangre , Tirotropina/sangre , Pérdida de Peso , Adolescente , Peso Corporal , Niño , Preescolar , Ejercicio Físico , Femenino , Conductas Relacionadas con la Salud , Humanos , Masculino , Obesidad/terapiaRESUMEN
Iatrogenic Cushing syndrome may occur as an undesirable outcome of high-dose glucocorticoids treatments. This may also cause hypothalamus-hypophysis-adrenal axis suppression. While this situation may be caused more frequently with oral and topical glucocorticoid therapy, iatrogenic Cushing syndrome in childhood, caused by steroid-containing nasal drops, is a rare event. Hereby, we present a baby who developed iatrogenic Cushing syndrome induced by long-term use of steroid-containing nasal drops for choanal atresia. In conclusion, the serious side effects of the nasal drops should have been explained to the family, and their long-term use should have been refrained.
Asunto(s)
Síndrome de Cushing/inducido químicamente , Dexametasona/análogos & derivados , Glucocorticoides/efectos adversos , Administración Intranasal , Dexametasona/administración & dosificación , Dexametasona/efectos adversos , Glucocorticoides/administración & dosificación , Humanos , Enfermedad Iatrogénica , Lactante , MasculinoRESUMEN
OBJECTIVE: The aims of this study were to analyze the role of fine-needle aspiration biopsy (FNAB) in the management of pediatric thyroid nodules and to analyze the malignancy risk of thyroid nodules by studying the association between autoimmune thyroiditis and thyroid cancer. METHODS: We conducted a retrospective study on 111 patients with thyroid nodules diagnosed in childhood or adolescence. FNAB was performed in 46 participants with thyroid nodules after ultrasonography (US). Cytology diagnoses were categorized as insufficient, benign, suspicious, and malignant. Clinical and surgical follow-up data were obtained from medical records. The clinical correlation and accuracy of FNABs were evaluated. RESULTS: The family history was positive in four patients. Forty-six patients had positive antithyroid antibodies and an inhomogeneous hypoechogenic US pattern. One patient had previous neck irradiation history. Eighty-six patients (%77.5) were euthyroid. All patients underwent US examination. The FNAB results of the 46 patients were 29 (63%) benign cases, 7 (15%) insufficient, and 10 (22%) suspicious patients. Malignancy was not reported at all. A repetition of FNAB in two benign cases, which were diagnosed with papillary carcinoma during followup, reported these cases as suspicious. Ten patients with suspicious FNAB results underwent surgery because of increases in the size of the nodules; two patients were diagnosed with papillary carcinoma. In this study, the prevalence of malignancy was 4.5% in patients with thyroid nodules. CONCLUSION: In this study, the importance of FNAB in the diagnosis and follow-up of thyroid nodules in childhood has been observed, and risk factors, such as history of familial thyroid carcinoma, radiotherapy to the neck at younger ages, suspicious cytological findings, and increased nodular sizes during follow-up in cases with Hashimoto thyroiditis have been correlated with increased thyroid carcinoma malignancy risk.
Asunto(s)
Nódulo Tiroideo/epidemiología , Adolescente , Adulto , Edad de Inicio , Biopsia con Aguja Fina , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Estudios Retrospectivos , Nódulo Tiroideo/diagnóstico , Nódulo Tiroideo/patología , Nódulo Tiroideo/cirugía , Tiroidectomía/estadística & datos numéricos , Adulto JovenRESUMEN
There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype does not contain a Y chromosome.
Asunto(s)
Glándulas Suprarrenales/fisiología , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/fisiopatología , Síndrome de Turner/complicaciones , Síndrome de Turner/fisiopatología , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/epidemiología , Hormona Adrenocorticotrópica/sangre , Niño , Preescolar , Análisis Mutacional de ADN , Técnicas de Diagnóstico Endocrino , Femenino , Humanos , Hidrocortisona/sangre , Incidencia , Esteroide 21-Hidroxilasa/análisis , Esteroide 21-Hidroxilasa/genética , Síndrome de Turner/sangre , Síndrome de Turner/epidemiología , Adulto JovenRESUMEN
Conn syndrome, which is rarely encountered in children, is characterized by increased aldosterone, low renin level, and arterial hypertension. Severe complications, such as impaired vascular smooth muscle function secondary to increased aldosterone, endothelial dysfunction, deterioration of left ventricular functions, acute effects on the cardiovascular system, and proteinuria, may be observed. We present a case of primary aldosteronism in a patient who has been followed up for approximately 2 years. A 15-year-old girl complained of headache lasting for approximately 1.5 years, which was diagnosed as severe hypertension. All of her systemic examinations were normal other than the hypertension. Primary aldosteronism was diagnosed on the basis of hypokalemia and alkalosis accompanied by plasma renin activity of 3.9 ng/mL/h and an aldosterone level of 1007 pg/mL (normal: 40-480). Left adrenalectomy was performed because a 10x12x12 mm adenoma was detected on abdominal magnetic resonance imaging. Although aldosterone levels returned to normal values after the surgery, antihypertensive treatment was continued because of the persistent hypertension. As the 24-h ambulatory blood pressure values of the patient were normal at 10 months after the operation, the treatment was stopped, and she was followed up for 15 months without any treatment. Since then, she has been normotensive.
Asunto(s)
Hiperaldosteronismo/diagnóstico , Hipertensión/diagnóstico , Adolescente , Diagnóstico Diferencial , Femenino , Humanos , Hiperaldosteronismo/complicaciones , Hipertensión/etiologíaRESUMEN
The most common reason for refractory hypoglycemia in newborns is congenital hyperinsulinism. We report a girl with congenital hyperinsulinism due to novel homozygous mutation (c.2041-25 G>A; aberrant splicing mutation) in the ABCC8 gene encoding SUR1 and during somatostatin analog (octreotide) discontinuation developed by nonhypoglycemic seizures. The newborn (birth weight of 3,750 g) was referred to our clinic because of hypoglycemic seizures at 4 h postnatal. On admission, blood glucose was 24 mg/dL and intravenous glucose infusion was started. The patient's insulin level was 27 mIU/mL during the hypoglycemic period. Phenobarbital (5 mg/ kg/day) was added because of short-acting generalized clonic seizures. Although the patient received high doses of diazoxide, esidrex, and octreotide approximately for 2 months, hypoglycemic episodes continued. Then the patient had near-total pancreatectomy, and pathology confirmed a diffuse form of congenital hyperinsulinism. There was homozygous mutation in the ABCC8 gene encoding SUR1, which confirmed the diagnosis of autosomal recessive congenital hyperinsulinism. During octreotide discontinuation, the patient developed non-hypoglycemic seizures, which were controlled by restarting the previous doses. In the light of in vitro and in vivo studies on antiepileptic effects of somatostatin, we believe that seizures in our case have developed secondary octreotide discontinuity.
Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , Hiperinsulinismo Congénito/genética , Octreótido/efectos adversos , Canales de Potasio de Rectificación Interna/genética , Receptores de Droga/genética , Convulsiones/inducido químicamente , Convulsiones/genética , Síndrome de Abstinencia a Sustancias/diagnóstico , Hiperinsulinismo Congénito/tratamiento farmacológico , Hiperinsulinismo Congénito/cirugía , Femenino , Fármacos Gastrointestinales/efectos adversos , Humanos , Hipoglucemia/tratamiento farmacológico , Hipoglucemia/genética , Hipoglucemia/cirugía , Lactante , Recién Nacido , Receptores de SulfonilureasRESUMEN
Congenital hypothyroidism (CH) is the most commonly encountered endocrinological birth defect, with an incidence of approximately 1 in 3000-4000 live births. It could be sporadic or familial as well as goitrous or non-goitrous. Inactivating mutations of TSHR , which is one of the genes responsible for non-goitrogenic congenital hypothyroidism, are mostly inherited autosomal recessively and result in a wide clinical spectrum owing to the extent of receptor function loss. Here, we report detailed clinical features of two CH cases with TSHR mutations. The first case was diagnosed before the initiation of the national screening program and had a severe clinical phenotype associated with a homozygous inactivating TSHR mutation (P556R), whereas the second case was diagnosed after the introduction of the national screening program and showed a mild clinical presentation and carried another homozygous missense mutation (P162A) in the TSHR gene. We compared the clinical features of our cases with those of previously reported patients with TSHR mutations to enhance the genotype/phenotype correlations between these mutations and corresponding clinical phenotypes.
Asunto(s)
Hipotiroidismo Congénito/diagnóstico , Mutación Missense , Mutación Puntual , Receptores de Tirotropina/genética , Hipotiroidismo Congénito/tratamiento farmacológico , Hipotiroidismo Congénito/genética , Análisis Mutacional de ADN , Humanos , Lactante , Recién Nacido , Masculino , Receptores de Tirotropina/metabolismo , Tiroxina/uso terapéuticoRESUMEN
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid dysgenesis is familial, indicating the involvement of genetic factors in the aetiology of the disease. In this study, we aimed to investigate the Mendelian (single-gene) causes of non-syndromic and non-goitrous congenital hypothyroidism (CHNG) in consanguineous or multi-case families. Here we report the results of the second part (n=105) of our large cohort (n=244), representing the largest such cohort in the literature, and interpret the overall results of the whole cohort. Additionally, 50 sporadic cases with thyroid dysgenesis and 400 unaffected control subjects were included in the study. In familial cases, first, we performed potential linkage analysis of four known genes causing CHNG (TSHR, PAX8, TSHB, and NKX2-5) using microsatellite markers and then examined the presence of mutations in these genes by direct sequencing. In addition, in silico analyses of the predicted structural effects of TSHR mutations were performed and related to the mutation specific disease phenotype. We detected eight new TSHR mutations and a PAX8 mutation but no mutations in TSHB and NKX2-5. None of the biallelic TSHR mutations detected in familial cases were present in the cohort of 50 sporadic cases. Genotype/phenotype relationships were established between TSHR mutations and resulting clinical presentations. Here we conclude that TSHR mutations are the main detectable cause of autosomal recessively inherited thyroid dysgenesis. We also outline a new genetic testing strategy for the investigation of suspected autosomal recessive non-goitrous CH.
Asunto(s)
Hipotiroidismo Congénito/genética , Receptores de Tirotropina/genética , Disgenesias Tiroideas/genética , Adolescente , Adulto , Niño , Preescolar , Dimerización , Femenino , Genes Recesivos/genética , Estudios de Asociación Genética , Humanos , Masculino , Repeticiones de Microsatélite/genética , Mutación Puntual/genética , Estructura Secundaria de Proteína , Estructura Terciaria de Proteína , Receptores de Tirotropina/química , Adulto JovenRESUMEN
Subcutaneous fat necrosis (SCFN) is an uncommon cause of neonatal hypercalcaemia. It is usually seen in neonates after a complicated delivery within the first month of life. While uncommon, hypercalcaemia can be fatal. It is characterised by red-purple plaques in fatty points along with firm subcutaneous nodules. Rarely, SCFN may cause severe hypercalcaemia with no visible skin lesion. In this rare case, we report severe infancy hypercalcaemia without characteristic skin lesion on first physical examination, unresponsive to hydration, diuretic, prednisolone and standard dose of pamidronate treatment. As timely diagnosis and treatment are so important, this complication should be kept in mind even in such clinical presentations.
RESUMEN
Thiamine-responsive megaloblastic anemia (TRMA) syndrome is an uncommon autosomal recessive disorder. The disease is caused by mutations in the gene, SLC19A2, encoding a high-affinity thiamine transporter, which disturbs the active thiamine uptake into cells. Major features include megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Cardiac malformations with conduction defects and/or dysrhythmias, have also been described in some patients. To our knowledge, only 13 TRMA patients with cardiac defects have been reported. Here, we describe the first case of TRMA syndrome with atrial standstill, probably caused by a 2 base-pair deletion in exon 4 (1147delGT) of the gene SLC19A2.
Asunto(s)
Arritmias Cardíacas/genética , Atrios Cardíacos/fisiopatología , Proteínas de Transporte de Membrana/genética , Anemia Megaloblástica/complicaciones , Anemia Megaloblástica/genética , Anemia Megaloblástica/fisiopatología , Arritmias Cardíacas/complicaciones , Arritmias Cardíacas/fisiopatología , Niño , Diabetes Mellitus/genética , Diabetes Mellitus/fisiopatología , Mutación del Sistema de Lectura , Pérdida Auditiva Sensorineural/complicaciones , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/fisiopatología , Humanos , Complejo Cetoglutarato Deshidrogenasa/deficiencia , Complejo Cetoglutarato Deshidrogenasa/genética , Masculino , Deficiencia de Tiamina/congénitoRESUMEN
Thyroid involvement with Langerhans cell histiocytosis (LCH) is very rare. We report here the case of a 15-year-old female patient with LCH affecting the thyroid gland. She was referred to the department of pediatric endocrinology for secondary amenorrhea. Prior to the diagnosis of LCH, the patient had symptoms of diabetes insipidus (DI) and amenorrhea. The mean time from symptom onset to diagnosis was 2 years. On physical examination the patient had grade 2 goiter, and ultrasound showed bilateral multiple hypoechoic nodules and thyroid heterogeneity. Biochemical analysis indicated central diabetes insipidus and panhypopituitarism. Magnetic resonance imaging (MRI) demonstrated a mass lesion involving the hypothalamus, which appeared iso- to hypo-intense on T2-weighted images and had an intense postcontrast enhancement on T1-weighted images. Nodular goiter coinciding with a hypothalamic mass suggested LCH, and an excisional biopsy was performed. Histological evaluation of the thyroid gland revealed extensive involvement by LCH, and this was confirmed by immunohistochemical analysis showing S-100 protein and CD1a positive Langerhans cells that were weakly positive for CD68. LCH should be considered in the differential diagnosis of a diffusely enlarged firm and irregular thyroid gland and posterior or anterior pituitary dysfunction.
Asunto(s)
Histiocitosis de Células de Langerhans/complicaciones , Enfermedades de la Tiroides/etiología , Glándula Tiroides/inmunología , Adolescente , Biopsia , Diabetes Insípida/etiología , Diabetes Insípida/inmunología , Diabetes Insípida/patología , Diagnóstico Diferencial , Femenino , Histiocitosis de Células de Langerhans/inmunología , Histiocitosis de Células de Langerhans/patología , Humanos , Hipotálamo/patología , Enfermedades de la Tiroides/inmunología , Enfermedades de la Tiroides/patología , Glándula Tiroides/patologíaRESUMEN
OBJECTIVE: Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. DESIGN: Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. PATIENTS: Hundred and thirty-nine children with CHNG phenotype born to consanguineous families. MEASUREMENTS: First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype. RESULTS: Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype-phenotype correlations were established and found to be related to the predicted structural effects of the mutations. CONCLUSIONS: Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.
Asunto(s)
Hipotiroidismo Congénito/genética , Receptores de Tirotropina/genética , Consanguinidad , Análisis Mutacional de ADN , Proteína Homeótica Nkx-2.5 , Proteínas de Homeodominio/genética , Humanos , Modelos Moleculares , Mutación , Factor de Transcripción PAX8 , Factores de Transcripción Paired Box/genética , Pakistán/etnología , Linaje , Tirotropina de Subunidad beta/genética , Factores de Transcripción/genética , Turquía , Reino UnidoRESUMEN
Corticosteroid-containing creams, pomades and ointments are frequently prescribed for the treatment of atopic dermatitis by allergologists and immunologists, dermatologists and many other physicians. This case is about a 1-month old infant who acquired iatrogenic Cushing syndrome after being applied diflucortolone valerate, a strong corticosteroid, ointment 3 to 4 times a day over the course of 4 months after being prescribed by a primary care physician.