RESUMEN
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and magnetic resonance imaging showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone was increased up to 285 ng/dL at Tanner stage 3. She underwent prophylactic gonadectomy. Histopathology reported fibrotic ovarian cortex containing numerous follicles in different maturation stages and rudimental remnants of Fallopian tubes. No features of gonadoblastoma were detected. Unexpectedly, testosterone levels were elevated four months after gonadectomy (157 ng/dL). Recent medical history revealed chronic daily comsumption of high dose biotin, as a therapeutic support for hair loss. Laboratory immunoassay instruments used streptavidin-biotin interaction to detect hormones and, in competitive immunoassays, high concentrations of biotin can result in false high results. Total testosterone, measured using liquid chromatography tandem mass spectrometry, was within reference intervals. Similar testosterone levels were detected on repeat immunoassay two weeks after biotin uptake interruption. Discordance between clinical presentation and biochemical results in patients taking biotin, should raise the suspicion of erroneous results. Improved communication among patients, health care providers, and laboratory professionals is required concerning the likelihood of biotin interference with immunoassays.
Asunto(s)
Biotina/efectos adversos , Síndrome de Denys-Drash/genética , Suplementos Dietéticos/efectos adversos , Adolescente , Castración , Síndrome de Denys-Drash/complicaciones , Síndrome de Denys-Drash/diagnóstico , Síndrome de Denys-Drash/terapia , Errores Diagnósticos , Femenino , Humanos , Hiperandrogenismo/sangre , Hiperandrogenismo/diagnóstico , Hiperandrogenismo/cirugía , Inmunoensayo , Fallo Renal Crónico/etiología , Valor Predictivo de las Pruebas , Testosterona/sangreRESUMEN
Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH. Patients can present with various dysmorphic features; however, renal failure has not been classically described. Case Description: A female patient came to our attention at the age of 7 years with characteristic signs of PTH resistance (i.e., hypocalcemia, hyperphosphatemia, and high serum PTH levels). She also presented with hypothyroidism, early-onset obesity, short metacarpal bones, and multiple subcutaneous ossifications, leading to a clinical diagnosis of pseudohypoparathyroidism. In addition to her genetic condition, she had bilateral renal hypodysplasia that was slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of 16 years and, after transplantation, experienced rapidly normalized calcium, phosphate, and PTH levels, allowing f withdrawal of vitamin D supplementation. Conclusions: To the best of our knowledge, ours is the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrated that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.
Asunto(s)
Túbulos Renales/fisiopatología , Hormona Paratiroidea/sangre , Seudohipoparatiroidismo/sangre , Insuficiencia Renal/fisiopatología , Calcio/sangre , Niño , Cromograninas/genética , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gs/genética , Humanos , Trasplante de Riñón , Fosfatos/sangre , Seudohipoparatiroidismo/complicaciones , Seudohipoparatiroidismo/genética , Insuficiencia Renal/sangre , Insuficiencia Renal/etiología , Insuficiencia Renal/cirugía , Vitamina D/sangreRESUMEN
Introduction: Growth failure in children is a frequent feature of childhood-onset Crohn's disease (CD), and stunting can persist into adulthood. Growth is an important outcome by which to judge the effectiveness of therapies in children; currently available studies in CD children have focused on the short-term impact of treatments on growth, and there are limited data regarding the long-term effects of treatments upon growth. Areas covered: We designed the present article to review whether the first treatment performed in newly diagnosed CD children may have a role on the future growth course. We conducted a systematic literature search to identify relevant studies published on the PubMed database from January 2002 up to now. We found only six surveys that documented mid-term growth course in newly diagnosed CD patients. Expert commentary: In the last years there have been relevant advances in the clinical management of CD children; however, there is a lack of knowledge about the best strategy to reverse growth failure. Children treated with enteral nutrition have appropriate height and weight gain but do not reverse the growth course. Further surveys are required to better explore not only clinical outcomes but also long-term growth course following each therapeutic strategy.
Asunto(s)
Corticoesteroides/uso terapéutico , Enfermedad de Crohn/terapia , Trastornos del Crecimiento/terapia , Terapia Nutricional/métodos , Niño , Enfermedad de Crohn/complicaciones , Enfermedad de Crohn/fisiopatología , Trastornos del Crecimiento/etiología , Trastornos del Crecimiento/fisiopatología , Humanos , Resultado del Tratamiento , Aumento de PesoRESUMEN
BACKGROUND: Vitamin D supplementation in childhood improves the achievement of peak bone mass. We investigated the effect of supplementation with calcitriol on bone turnover in recent-onset type 1 diabetes (T1D). Moreover, the association between osteocalcin and parameters of ß-cell function and metabolic control was examined. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a post-hoc analysis of a double-blind, placebo-controlled study of calcitriol supplementation to preserve ß-cell function. 27 recent-onset T1D subjects, mean age 22 years, were randomized to 0.25 µg calcitriol per day or placebo (1:1) and followed up for one year. Changes in bone formation (osteoclacin) and resorption (beta-CrossLaps) markers, and differences between placebo and calcitriol-treated group were evaluated. At baseline, osteocalcin levels were significantly lower in female than in male patients (P<0.01) while no other metabolic parameters as HbA1c and C-peptide differed between gender. No significant correlations were found in relation to HbA1c, insulin requirement and C-peptide. At 1 year follow-up, no significant differences were observed between calcitriol and placebo groups for osteocalcin and ß-CrossLaps. In the placebo group osteocalcin levels were unrelated with parameters of metabolic control, such as C-peptide, insulin requirement or HbA1c. Changes of C-peptide, insulin requirement and HbA1c were not related to osteocalcin levels. CONCLUSIONS: Supplementation with 0.25 µg calcitriol per day to patients with new-onset T1D does not affect circulating markers of bone turnover. OC levels were unrelated to ß-cell function and other metabolic parameters suggesting that OC is ineffective to control pancreatic function in presence of aggressive autoimmune destruction.
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Resorción Ósea/tratamiento farmacológico , Calcitriol/administración & dosificación , Diabetes Mellitus Tipo 1/metabolismo , Osteogénesis/efectos de los fármacos , Vitamina D/metabolismo , Adolescente , Adulto , Edad de Inicio , Resorción Ósea/complicaciones , Resorción Ósea/metabolismo , Péptido C/sangre , Niño , Colágeno/sangre , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/fisiopatología , Femenino , Estudios de Seguimiento , Hemoglobina Glucada/metabolismo , Humanos , Insulina/sangre , Células Secretoras de Insulina/efectos de los fármacos , Masculino , Osteocalcina/metabolismo , Fragmentos de Péptidos/sangreRESUMEN
OBJECTIVE: We investigated whether supplementation of the active form of vitamin D (calcitriol) in recent-onset type 1 diabetes can protect beta-cell function evaluated by C-peptide and improve glycemic control assessed by A1C and insulin requirement. RESEARCH DESIGN AND METHODS: Thirty-four subjects (aged 11-35 years, median 18 years) with recent-onset type 1 diabetes and high basal C-peptide >0.25 nmol/l were randomized in a double-blind trial to 0.25 microg/day calcitriol or placebo and followed-up for 2 years. RESULTS: At 6, 12, and 24 months follow-up, A1C and insulin requirement in the calcitriol group did not differ from the placebo group. C-peptide dropped significantly (P < 0.001) but similarly in both groups, with no significant differences at each time point. CONCLUSIONS: At the doses used, calcitriol is ineffective in protecting beta-cell function in subjects (including children) with recent-onset type 1 diabetes and high C-peptide at diagnosis.
Asunto(s)
Calcitriol/uso terapéutico , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Diabetes Mellitus Tipo 1/metabolismo , Células Secretoras de Insulina/efectos de los fármacos , Células Secretoras de Insulina/metabolismo , Adolescente , Adulto , Péptido C/metabolismo , Calcitriol/farmacología , Niño , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Hipoglucemiantes/farmacología , Hipoglucemiantes/uso terapéutico , Insulina/uso terapéutico , Masculino , Adulto JovenRESUMEN
OBJECTIVE: To test the hypothesis that normalization of the growth hormone (GH) response to stimulation in patients with GH deficiency (GHD) and normal magnetic resonance imaging (MRI) of the hypothalamic-pituitary area might occur earlier than at attainment of final height. STUDY DESIGN: Prepubertal children with short stature (21 boys and 12 girls; age, 5.2-10 years), in whom a diagnosis of GHD was based on a GH response <10 microg/L after 2 pharmacologic tests (clonidine, arginine, or insulin hypoglycemia), and normal MRI of the hypothalamic-pituitary area were studied. After 1 to 6 months, all children underwent reevaluation of GH secretion by means of one of the provocative tests previously used. During that time, none of the children received GH therapy or entered puberty. RESULTS: A GH response > or =10 microg/L after retesting was found in 28 patients, and a GH response <10 microg/L was found in 5. In 9 patients, the peak GH response at diagnosis was <7 microg/L to both tests used. In 8, the GH response at retesting was > or =10 microg/L and was 9.0 microg/L in the remaining child. CONCLUSIONS: We suggest that patients with pathologic GH responses to provocative tests but normal MRI should be reevaluated and followed up before a diagnosis of GHD is firmly established.