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1.
Dtsch Med Wochenschr ; 2019 Jul 24.
Artículo en Alemán | MEDLINE | ID: mdl-31340395

RESUMEN

BACKGROUND: Many recommendations for medical care for women with Turner syndrome (TS) have been published in the past. There are no studies that analyse the care situation of the women in Germany until now. METHODS: The study was performed in 2015 based on a questionnaire that was completed by TS women (aged ≥ 18 years; median: 25 years). The questionnaire was devised by a French team and used with their permission. All women had received growth hormone treatment during childhood. The women were identified and addressed in writing through eleven cooperating centers and the support group. In all, 130 questionnaires were evaluated. RESULTS: 79 of the 130 women (61 %) stated that they had health problems. 38 % of the women were under medical care by only one physician and 42 % by two physicians. The gynecologist was mentioned most often (by 80.3 %), followed by the family physician (53.8 %). ENT was mentioned as a problem system by 35 %, but only 3 % of the women attended an ENT physician. The question as to whether at least one of the following examinations (measurements of blood pressure, blood sugar, blood fats, liver function and/or thyroid hormones, echocardiographic and/or audiogram examination) had been performed during a period of 4 years was answered as follows: blood pressure (85 %), blood sugar (47 %), blood fats (41 %), liver function (46 %), thyroid hormones (44 %), echocardiography (57 %) and audiogram (35 %). A comprehensive examination was performed in 9.8 % of the women. 103 women (80.5 %) received sexual hormone replacement therapy. 76 women were on further drugs; thyroid hormones (44 %) and antihypertensive drugs (11 %) were stated most often. CONCLUSIONS: This is the first study which analyses the current situation of medical care of TS women in Germany. Our data show that medical care of young adult TS women is not optimal. The study cannot clarify the reasons. Due to the numerous and different comorbidities, the medical care of TS women is complex and should therefore be provided multidisciplinarily by different specialists under the direction of one physician.

2.
J Pediatr Endocrinol Metab ; 32(3): 259-267, 2019 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-30817301

RESUMEN

Background 11ß-hydroxylase deficiency (11ßOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5-8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11ßOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11ßOHD. Methods Clinical, biochemical and radiological data of patients with 11ßOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11ßOHD were identified (0.1-13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA-CA: 5.5 years, range 1.5-9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11ßOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retrospectively. Testicular adrenal rest tumours (TARTs) were detected in three patients at 3.7 years, 11 years and 14.4 years. Conclusion The diagnosis of CAH due to 11ßOHD is delayed and should be suspected in children with arterial hypertension, tall stature and precocious pseudopuberty. Patients may develop TARTs as early as infancy. 11ßOHD should be included in newborn screening programmes, at least in newborns of index families, to allow early diagnosis and the start of treatment to reduce morbidity.


Asunto(s)
Hiperplasia Suprarrenal Congénita/diagnóstico , Esteroide 11-beta-Hidroxilasa/genética , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/genética , Hormona Adrenocorticotrópica/sangre , Niño , Preescolar , Humanos , Lactante , Masculino , Mutación , Renina/sangre , Estudios Retrospectivos , Evaluación de Síntomas
3.
Dtsch Med Wochenschr ; 144(14): e87-e93, 2019 Jul.
Artículo en Alemán | MEDLINE | ID: mdl-30873573

RESUMEN

INTRODUCTION: Psychosocial problems such as anxious personality, low self-esteem, late separation from home and/or late sexual experience have been described in girls and women with Turner syndrome (TS). METHODS: The study was performed in 2015 based on a questionnaire that was sent out to 779 women with TS aged 25 years (median). The questionnaire was devised by a French team and used with their permission. In all, 130 questionnaires (16.7 %) could be evaluated. The questions from the individual topics were not always completely answered. RESULTS: (mean ± SD).: 116 women (89.9 %) were not married; 52 women (40 %) lived in their parents' home. 47.6 % had a high-school/technical diploma or university degree. 60 women (46 %) had a job; 51 women (39 %) had not completed vocational training. Puberty was induced at the age of 14.2 ± 2.1 years in 78 % of the women. 80 % of the women received hormone replacement therapy at the time of the questionnaire survey. 66 of 93 women (71 %) found that the disease had a negative influence on emotional life. "Love life and sexual relationship" was the topic mentioned most frequently by 44 women (66.6 %). 116 women answered questions on sexuality. Here, 77 % had the first French kiss at the age of 16.4 ± 3.6 years and 62.4 % had sexual intercourse for the first time at the age of 19.0 ±â€Š3.4 years. 81 % of the women stated that they had a partner relationship for more than 6 months (94 women had a male partner and 5 had a female partner). The question as to the wish to have children was answered in the affirmative by 89 of 124 women (71.8 %); 38.2 % desired spontaneous pregnancy and 44.9 % had considered in vitro fertilization or adoption. DISCUSSION: The women's answers show that care needs to be improved. There are deficits in the topics of family, emotional life, relationships, sexuality, fertility and pregnancy. Therefore, the medical team should also include psychologists and social workers.

4.
J Clin Res Pediatr Endocrinol ; 11(3): 247-252, 2019 09 03.
Artículo en Inglés | MEDLINE | ID: mdl-30630809

RESUMEN

Objective: The prevalence of overweight and obesity in childhood and adolescence are rapidly increasing and influenced by genetic, familial, environmental, socioeconomic and cultural factors. The aim of the study was to compare risk factors for childhood obesity in Ukraine (UA) and Germany (DE) using comparable investigative tools. Methods: Two groups of children, aged 8 to 18 years, from DE (93 children) and UA (95 children) were divided into overweight and obese groups. Anthropometric data and detailed medical history were collected. Results: Risk factors in pregnancy (prematurity, weight gain >20 kg, early contractions) were equally frequent in both groups. Positive correlations of body mass index (BMI)-standard deviation score (SDS) between children and mothers were noted. The proportion of family members with diabetes mellitus was lower in the UA group. Obesity was more frequent at one year of age in DE children. The DE group also became overweight at an earlier age and remained overweight over a longer period of time compared to UA. The mean BMI-SDS of obese children was lower in the UA group. In both groups waist circumference to height ratio was >0.5, indicating presence of a cardiometabolic risk factor. About half of the patients in both groups had blood pressure values exceeding the 95th percentile. Conclusion: Similar risk factors for obesity were observed among two groups of children in UA and DE. Differences were observed regarding the prevalence of specific risk factors for childhood obesity. Population-specific distribution of risk factors needs to be considered in order to optimize prevention and treatment strategies.

5.
Endocr Connect ; 2019 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-30620712

RESUMEN

OBJECTIVE: Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; non-classical, NC) depending on residual 21-hydroxylase activity. Phenotypes and genotypes correlate well in 80-90% of cases. We set out to test the predictive value of CAH phenotype assignment based on genotype classification in a large multi-center cohort. DESIGN AND METHODS: A retrospective evaluation of genetic data from 538 CAH patients (195 screened) collected from 28 tertiary centers as part of a German quality control program was performed. Genotypes were classified according to residual 21-hydroxylase activity (null, A, B, C) and assigned clinical phenotypes correlated with predicted phenotypes, including analysis of Prader stages. Ultimately, concordance of genotypes with clinical phenotypes was compared in patients diagnosed before or after the introduction of nationwide CAH-newborn screening. RESULTS: Severe genotypes (null and A) correlated well with the expected phenotype (SW in 97% and 91%, respectively) whereas less severe genotypes (B and C) correlated poorly (SV in 45% and NC in 57%, respectively), This was underlined by a high degree of virilization in girls with C genotypes (Prader stage <1 in 28%). SW was diagnosed in 90% of screening positive babies with classical CAH compared with 74% of pre-screening patients. CONCLUSIONS: In our CAH series, assigned phenotypes were more severe than expected in milder genotypes and in screened versus pre-screening patients. Diagnostic discrimination between phenotypes based on genotypes may prove overcome due the overlap in their clinical presentations.

6.
J Pediatr Endocrinol Metab ; 31(8): 895-902, 2018 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-29995632

RESUMEN

Background Recombinant human insulin-like growth factor 1 (rhIGF-I) has been approved as an orphan drug for the treatment of growth failure in children and adolescents with severe primary IGF-I deficiency (SPIGFD) with little pharmacokinetic data available. Therefore, sequential measurements of serum IGF-I, glucose, potassium, insulin and cortisol were performed in patients treated with rhIGF-I to evaluate their significance in safety and efficacy. Methods Repetitive blood samples were taken after meals before and 30, 60, 120, 180 and 360 min after rhIGF-I injections in two male patients with Laron syndrome at times of dose adjustments. Results Maximal IGF-I concentrations were observed 2 h after injections (495 ng/mL) and concentrations were still higher 6 h after injections than at baseline (303 ng/mL vs. 137 ng/mL). Thirteen percent of all and 33% of maximum IGF-I concentrations were greater than +2 standard deviation score (SDS) calculated for bone age (BA) (IGF-I SDS BA) rather than chronological age (CA) as BA was significantly delayed to CA by 3.2 years (p=0.0007). Height velocities correlated with individual maximum IGF-I SDS BA (ρ=0.735; p<0.0001). Serum insulin, cortisol and glucose did not correlate with IGF-I concentrations, but serum potassium showed a negative correlation (ρ=-0.364; p<0.0001) with IGF-I concentrations. Conclusions Sequential measurements of serum IGF-I, glucose and potassium in patients with Laron syndrome may aid in optimizing and individualizing rhIGF-I treatment. IGF-I concentrations should be referenced according to BA which better reflects the biological age. The inverse correlation of IGF-I and serum potassium concentrations after injections of rhIGF-I has not been reported before and warrants further consideration.


Asunto(s)
Biomarcadores/sangre , Trastornos del Crecimiento/sangre , Pérdida Auditiva Sensorineural/sangre , Factor I del Crecimiento Similar a la Insulina/deficiencia , Síndrome de Laron/sangre , Proteínas Recombinantes/administración & dosificación , Adolescente , Adulto , Glucemia/análisis , Niño , Estudios de Seguimiento , Trastornos del Crecimiento/tratamiento farmacológico , Trastornos del Crecimiento/patología , Pérdida Auditiva Sensorineural/tratamiento farmacológico , Pérdida Auditiva Sensorineural/patología , Humanos , Insulina/sangre , Factor I del Crecimiento Similar a la Insulina/administración & dosificación , Factor I del Crecimiento Similar a la Insulina/análisis , Síndrome de Laron/tratamiento farmacológico , Síndrome de Laron/patología , Masculino , Pronóstico , Adulto Joven
7.
Horm Res Paediatr ; 89(3): 157-165, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29455199

RESUMEN

BACKGROUND: Paediatric prolactinomas are rare. The aim of this study was to investigate the clinical features and outcome of paediatric patients with prolactinomas. METHODS: In this single-centre retrospective analysis, clinical, biochemical, and radiological features of all paediatric patients with pituitary adenomas diagnosed between 2000 and 2016 were evaluated. RESULTS: Among 21 patients with pituitary adenomas, 12 patients with prolactinomas (median age 14.2 years, range 11-16.6 years, 8 females, 4 males) were identified (7 macro- and 5 microprolactinomas). The most common clinical symptoms were headaches (67%) and pubertal delay (67%). All patients with macroprolactinomas with prolactin concentrations >10,000 mU/L had at least 1 pituitary hormone deficiency. Cabergoline as first-line treatment (n = 11, median follow-up of 37 months, range 12-89 months) induced normoprolactinemia (n = 8), reduced the mean tumour volume by 80%, and ameliorated headaches (p = 0.016) and pubertal delay (p = 0.031), whereas intermittent moderate side effects occurred in 55%. CONCLUSION: Adolescents with headaches and pubertal delay should be investigated for prolactinomas. Treatment with cabergoline is well tolerated and effective in reducing clinical symptoms and prolactin concentrations was well as inducing tumour shrinkage. Further clinical prospective studies are needed to standardize paediatric treatment modalities.


Asunto(s)
Neoplasias Hipofisarias/epidemiología , Prolactinoma/epidemiología , Adolescente , Antineoplásicos/uso terapéutico , Cabergolina , Niño , Ergolinas/uso terapéutico , Femenino , Alemania/epidemiología , Humanos , Masculino , Neoplasias Hipofisarias/tratamiento farmacológico , Prolactinoma/tratamiento farmacológico , Estudios Retrospectivos
8.
Genet Med ; 20(7): 728-736, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29261175

RESUMEN

PURPOSE: Combined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in known genes account for only a small proportion of cases. METHODS: To identify novel genetic causes for congenital hypopituitarism, we performed exome-sequencing studies on 10 patients with CPHD and their unaffected parents. Two candidate genes were sequenced in further 200 patients. Genotype data of known hypopituitary genes are reviewed. RESULTS: We discovered 51 likely damaging variants in 38 genes; 12 of the 51 variants represent de novo events (24%); 11 of the 38 genes (29%) were present in the E12.5/E14.5 pituitary transcriptome. Targeted sequencing of two candidate genes, SLC20A1 and SLC15A4, of the solute carrier membrane transport protein family in 200 additional patients demonstrated two further variants predicted as damaging. We also found combinations of de novo (SLC20A1/SLC15A4) and transmitted variants (GLI2/LHX3) in the same individuals, leading to the full-blown CPHD phenotype. CONCLUSION: These data expand the pituitary target genes repertoire for diagnostics and further functional studies. Exome sequencing has identified a combination of rare variants in different genes that might explain incomplete penetrance in CPHD.

9.
Horm Res Paediatr ; 89(1): 7-12, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29073619

RESUMEN

INTRODUCTION: Sodium chloride supplementation in salt-wasting congenital adrenal hyperplasia (CAH) is generally recommended in infants, but its implementation in routine care is very heterogeneous. OBJECTIVE: To evaluate oral sodium chloride supplementation, growth, and hydrocortisone and fludrocortisone dose in infants with salt-wasting CAH due to 21-hydroxylase in 311 infants from the AQUAPE CAH database. RESULTS: Of 358 patients with classic CAH born between 1999 and 2015, 311 patients had salt-wasting CAH (133 females, 178 males). Of these, 86 patients (27.7%) received oral sodium chloride supplementation in a mean dose of 0.9 ± 1.4 mmol/kg/day (excluding nutritional sodium content) during the first year of life. 225 patients (72.3%) were not treated with sodium chloride. The percentage of sodium chloride-supplemented patients rose from 15.2% in children born 1999-2004 to 37.5% in children born 2011-2015. Sodium chloride-supplemented and -unsupplemented infants did not significantly differ in hydrocortisone and fludrocortisone dose, target height-corrected height-SDS, and BMI-SDS during the first 2 years of life. CONCLUSION: In the AQUAPE CAH database, approximately one-third of infants with salt-wasting CAH receive sodium chloride supplementation. Sodium chloride supplementation is performed more frequently in recent years. However, salt supplementation had no influence on growth, daily fludrocortisone and hydrocortisone dose, and frequency of adrenal crisis.


Asunto(s)
Hiperplasia Suprarrenal Congénita , Desarrollo Infantil , Bases de Datos Factuales , Fludrocortisona/administración & dosificación , Hidrocortisona/administración & dosificación , Cloruro de Sodio/administración & dosificación , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino
11.
Pediatrics ; 139(5)2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28557715

RESUMEN

Amyloidosis cutis dyschromica is a rare form of primary cutaneous amyloidosis without systemic involvement and characterized by asymptomatic, progressive hyper- and hypopigmentation. We present the first case of a patient with amyloidosis cutis dyschromica diagnosed previously elsewhere as having Addison disease with generalized hyperpigmentation of the skin. This case suggests that in patients presenting with asymptomatic cutaneous dyschromia a skin biopsy for histopathological examination should be considered.


Asunto(s)
Amiloidosis Familiar/diagnóstico , Hiperpigmentación/etiología , Enfermedades Cutáneas Genéticas/diagnóstico , Piel/patología , Niño , Diagnóstico Diferencial , Humanos , Masculino
12.
Neuropharmacology ; 112(Pt A): 181-187, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-26995729

RESUMEN

Non-selective and subunit (GluN2B)-specific N-methyl-d-aspartate receptor (NMDAR) antagonists represent promising alternative antidepressant drugs with fast onset of the therapeutic action. The neuronal activation pattern induced by NMDAR antagonists is well characterized by c-Fos expression analysis only in the adult rodent brain. In contrast, there is little information available regarding their effects during postnatal development. Here we performed a systematic c-Fos brain mapping of the non-selective NMDAR antagonist MK-801 and the GluN2B-specific antagonist Ro 25-6981 from postnatal day 16 (P16) to P40. We found significant regional differences with gender-specificity in the activation pattern compared to the adult. Surprisingly, in the hippocampus, MK-801 triggered at pre-pubertal stages (especially at P24) very strong c-Fos expression, followed by low levels after P30, the approximate time point of puberty onset in mice. The cortical distribution of MK-801-triggered c-Fos expression before puberty differed also substantially from the adult brain, showing high levels only in deep cortical layers at pre-pubertal stages. In comparison, the cortical activation induced by Ro 25-6981 diminished from high pre-pubertal levels and was in comparison with that triggered by MK-801 low in the hippocampus. These results reveal highly dynamic changes in the c-Fos activation pattern induced by NMDAR antagonists during puberty. This article is part of the Special Issue entitled 'Ionotropic glutamate receptors'.


Asunto(s)
Envejecimiento , Corteza Cerebral/efectos de los fármacos , Corteza Cerebral/metabolismo , Hipocampo/efectos de los fármacos , Hipocampo/metabolismo , Proteínas Proto-Oncogénicas c-fos/metabolismo , Receptores de N-Metil-D-Aspartato/antagonistas & inhibidores , Animales , Corteza Cerebral/crecimiento & desarrollo , Maleato de Dizocilpina/farmacología , Femenino , Hipocampo/crecimiento & desarrollo , Masculino , Ratones , Ratones Endogámicos C57BL , Fenoles/farmacología , Piperidinas/farmacología
13.
Eur Arch Psychiatry Clin Neurosci ; 266(7): 673-7, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26482736

RESUMEN

NMDA receptor (NMDAR) antagonists induce in perinatal rodent cortical apoptosis and protracted schizophrenia-like alterations ameliorated by antipsychotic treatment. The broad-spectrum antibiotic minocycline elicits antipsychotic and neuroprotective effects. Here we tested, if minocycline protects also against apoptosis triggered by the NMDAR antagonist MK-801 at postnatal day 7. Surprisingly, minocycline induced widespread cortical apoptosis and exacerbated MK-801-triggered cell death. In some areas such as the subiculum, the pro-apoptotic effect of minocycline was even more pronounced than that elicited by MK-801. These data reveal among antipsychotics unique pro-apoptotic properties of minocycline, raising concerns regarding consequences for brain development and the use in children.


Asunto(s)
Antibacterianos/farmacología , Apoptosis/efectos de los fármacos , Encéfalo/efectos de los fármacos , Maleato de Dizocilpina/farmacología , Antagonistas de Aminoácidos Excitadores/farmacología , Minociclina/farmacología , Neuronas/efectos de los fármacos , Fármacos Neuroprotectores/farmacología , Receptores de N-Metil-D-Aspartato/antagonistas & inhibidores , Animales , Antibacterianos/administración & dosificación , Encéfalo/patología , Modelos Animales de Enfermedad , Ratones , Ratones Endogámicos C57BL , Minociclina/administración & dosificación , Fármacos Neuroprotectores/administración & dosificación
14.
Am J Hypertens ; 29(2): 266-72, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26071487

RESUMEN

BACKGROUND: Data on blood pressure (BP) in children and adolescents with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency are conflicting in the literature. PATIENTS AND METHODS: BP data of n = 716 children and adolescents (aged 3-18 years) from a national CAH database were analyzed. BP data were adjusted for height and compared to contemporary national reference data. A systolic and diastolic BP above the 95th centile was defined as hypertensive. RESULTS: Overall prevalence of hypertension was 12.5%. Prevalence of hypertension was higher in younger children than in adolescents (18.5% vs. 4.9%). Until 8 years of age, fludrocortisone dose/m(2)/day correlated significantly with BP in regression analysis (P < 0.0001). BP correlated significantly with body mass index standard deviation score (BMI-SDS) (P < 0.0001), but not with hydrocortisone dose. In patients with salt-wasting CAH, BMI-SDS and BP were significantly higher compared to patients with simple virilising CAH, P < 0.01. CONCLUSION: Especially young CAH children seem to be at risk for-most likely transient-hypertension, since the prevalence of hypertension decreases with age. In children up to 8 years of age, the used fludrocortisone dose is a significant risk factor for hypertension. Therefore we recommend accurate measurement of BP and careful fludrocortisone dosing in children with CAH.


Asunto(s)
Hiperplasia Suprarrenal Congénita/fisiopatología , Adolescente , Presión Sanguínea , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino
15.
Horm Res Paediatr ; 84(4): 266-74, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26279111

RESUMEN

BACKGROUND: Levothyroxine (L-T4) treatment of euthyroid children with Hashimoto thyroiditis (HT) is a controversial issue. PATIENTS AND METHODS: We conducted a prospective, randomized, controlled clinical trial. Out of 79 identified euthyroid patients, 59 started the study; 25 patients (21 female, 4 male; age: 11.8 ± 2.3 years) received L-T4 at a mean dose of 1.6 µg/kg (SD, 0.8) daily, and 34 (27 female, 7 male; age: 12.6 ± 1.2 years) were not treated. Patients developing subclinical hypothyroidism during follow-up (n = 13) were treated with L-T4 and removed from the observation group. As the main outcome measures, thyroid gland volume (determined by ultrasound) as well as serum levels of TSH, free T4, and antibodies against thyroid peroxidase and thyroglobulin were assessed every 6 months for 36 months. RESULTS: At the start, the mean thyroid volume (standard deviation score, SDS) was 2.5 in the treatment group and 1.6 in the observation group. There was a constant decline in mean thyroid volume (SDS) from 2.13 (month 12) to 1.12 (month 30) in the treated group, with a delta thyroid volume of -1.01 SDS. In the observation group, the mean delta thyroid volume increased to +0.27 SDS. The change of the delta thyroid volume was statistically significantly different between both groups during the 12- and 30-month time points (p < 0.05). L-T4 had no effect on thyroid function and serum thyroid antibodies. CONCLUSIONS: L-T4 treatment can decrease the thyroid volume in euthyroid children with HT, but the effect is limited to a definite time period.


Asunto(s)
Enfermedad de Hashimoto/tratamiento farmacológico , Glándula Tiroides/efectos de los fármacos , Tiroxina/uso terapéutico , Adolescente , Autoanticuerpos/sangre , Niño , Femenino , Enfermedad de Hashimoto/sangre , Enfermedad de Hashimoto/diagnóstico por imagen , Enfermedad de Hashimoto/inmunología , Humanos , Yoduro Peroxidasa/inmunología , Masculino , Tamaño de los Órganos/efectos de los fármacos , Tiroglobulina/inmunología , Glándula Tiroides/diagnóstico por imagen , Tirotropina/sangre , Tiroxina/sangre , Tiroxina/farmacología , Resultado del Tratamiento , Ultrasonografía
16.
JIMD Rep ; 24: 109-13, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26006722

RESUMEN

Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature. Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. The diagnosis was confirmed by a novel homozygous mutation c.530G>C; p.(Arg177Pro) in exon 2 of the SPR gene. Because of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present. A general hypothalamic affection could be excluded. Since dopamine is known to regulate growth-hormone excretion, IGF-1, IGF-BP3, and peripheral thyroid hormone levels were monitored under L-dopa/carbidopa supplementation. Both growth-hormone-dependent factors and thyroid function normalized under treatment. This is the first report describing growth-hormone deficiency and central hypothyroidism in SR deficiency. It extends the phenotypic spectrum of the disease and identifies dopamine depletion as cause for the endocrinological disturbances.

17.
Horm Res Paediatr ; 84(2): 130-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25967124

RESUMEN

BACKGROUND: Transient thyroid dysfunction occurs in children after cardiopulmonary bypass (CPB). We demonstrated significant benefits of acute postoperative tri-iodothyronine (T3) treatment for recovery and myocardial function. Now we report the long-term neurodevelopment of these children. METHODS: Twenty-eight children (70% of the original study population) could be recruited for a follow-up examination (median age 10.7 years, range 10-19.6 years) retaining the double-blind, randomized, placebo-controlled protocol. Cognitive function and motor development were tested, as were growth and thyroid and cardiac functions. RESULTS: The median full-scale intelligence quotient of all children was within the reference range and similar in the placebo and T3 groups. Tests for motor and cognitive functions, growth, and thyroid and cardiac functions revealed concurrent results. CONCLUSIONS: Overall intellectual development is preserved in adolescents treated with CPB in infancy irrespectively of low postoperative thyroid hormone concentrations. While acute postoperative T3 treatment in children after CPB improves recovery, no significant long-term effects on neurodevelopment could be detected. We therefore speculate that transient postoperative thyroid dysfunction by means of nonthyroidal illness syndrome is predominantly mediated by extranuclear, nongenomic mechanisms and thus acutely affects the cardiovascular system but not the development of the central nervous system mediated by genomic mechanisms.


Asunto(s)
Puente Cardiopulmonar/efectos adversos , Desarrollo Infantil , Cardiopatías Congénitas/cirugía , Sistema Nervioso/crecimiento & desarrollo , Triyodotironina/uso terapéutico , Adolescente , Niño , Cognición , Método Doble Ciego , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/complicaciones , Humanos , Masculino , Destreza Motora , Pruebas Neuropsicológicas , Complicaciones Posoperatorias/tratamiento farmacológico , Complicaciones Posoperatorias/fisiopatología , Enfermedades de la Tiroides/tratamiento farmacológico , Enfermedades de la Tiroides/etiología , Enfermedades de la Tiroides/fisiopatología , Adulto Joven
18.
J Pediatr Endocrinol Metab ; 27(9-10): 915-22, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24854524

RESUMEN

AIM: The aim of this study was to evaluate the morphology and elastic properties of the aorta in children and adolescents with Ullrich-Turner syndrome (UTS) treated with growth hormone, by using magnetic resonance imaging (MRI). METHODS: Thirty-seven conscious UTS patients were examined using a 1.5-T whole-body MRI. Contrast-free three-dimensional (3D)-MR angiographies were performed, including 2D cine MRI, to calculate the aortic compliance (C) and cine of the aortic valve. RESULTS: Changes of aortic morphology were evident in 40% of the patients, whereas six had more than one alteration. A bicuspid aortic valve was identified in three patients that were missed by previous echocardiography. The aortic compliances in UTS patients were similar to those in healthy persons. CONCLUSION: This study shows that aortic morphology and compliance can be assessed by MRI without using contrast agents and without sedation in children and adolescents with UTS.


Asunto(s)
Aorta/patología , Imagen por Resonancia Magnética , Síndrome de Turner/patología , Adolescente , Aortografía , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Estudios Prospectivos , Síndrome de Turner/diagnóstico por imagen
19.
Horm Res Paediatr ; 81(3): 196-203, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24481334

RESUMEN

BACKGROUND: GNAS encodes the α subunit of the stimulatory G protein (Gsα). Maternal inherited Gsα mutations cause pseudohypoparathyroidism type Ia (PHP-Ia), associated with shortening of the 4th and 5th metacarpals. AIMS: Here we investigated the Gsα pathway in short patients with distinct shortening of the 4th and 5th metacarpals. METHODS: In 571 children with short stature and 4 patients with PHP-Ia metacarpal bone lengths were measured. In identified patients we analysed the Gsα protein function in platelets, performed GNAS sequencing, and epigenetic analysis of four significant differentially methylated regions. RESULTS: In 51 patients (8.9%) shortening of the 4th and 5th metacarpals was more pronounced than their height deficit. No GNAS coding mutations were identified in 20 analysed patients, except in 2 PHP-Ia patients. Gsα activity was reduced in all PHP-Ia patients and in 25% of the analysed patients. No significant methylation changes were identified. CONCLUSIONS: Our findings suggest that patients with short stature and distinct metacarpal bone shortening could be part of the wide variety of PHP/PPHP, therefore it was worthwhile analysing the Gsα protein function and GNAS gene in these patients in order to further elucidate the phenotype and genotype of Gsα dysfunction.


Asunto(s)
Sitios Genéticos , Trastornos del Crecimiento , Huesos del Metacarpo , Seudohipoparatiroidismo , Adolescente , Niño , Preescolar , Femenino , Trastornos del Crecimiento/diagnóstico por imagen , Trastornos del Crecimiento/genética , Trastornos del Crecimiento/metabolismo , Humanos , Lactante , Masculino , Huesos del Metacarpo/diagnóstico por imagen , Huesos del Metacarpo/metabolismo , Tamaño de los Órganos/genética , Seudohipoparatiroidismo/diagnóstico por imagen , Seudohipoparatiroidismo/genética , Seudohipoparatiroidismo/metabolismo , Radiografía
20.
Horm Res Paediatr ; 80(5): 356-62, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24217296

RESUMEN

BACKGROUND: Ullrich-Turner syndrome (UTS) girls often present with short stature in adolescence to the endocrinologist when the efficacy of growth hormone (GH) to improve growth remains unknown and parameters to estimate individual GH responsiveness have yet to be determined. OBJECTIVE: Retrospective evaluation of adult height (AH) and predicted adult height at GH start (descriptive model of Ranke, Model PredAH) in early and late GH-treated German UTS patients. SUBJECTS/METHODS: 313 patients treated with GH, early [chronological age (CA) at GH start <12 years, n = 259] or late (CA at GH start ≥12 years, n = 54) who reached AH were selected from KIGS (Pfizer International Growth Database). RESULTS: AH (152.5 ± 5.9 vs. 151.1 ± 5.4 cm, p = n.s.) after GH treatment for 7.5 ± 2.12 years (GH start early) and for 5.2 ± 1.2 years (GH start late) were similar (p = n.s.) as Model PredAH (155.7 ± 4.8 vs. 154.7 ± 4.8 cm; p = n.s.) but higher (p < 0.001) than projected adult height (Ranke, ProjAH; 148.2 ± 5.5 vs. 145.2 ± 6.7 cm; p = 0.001). Total height gain over ProjAH was 4.3 ± 4.6 cm (GH start early) and 5.8 ± 4.7 cm (GH start late, p = 0.021), respectively. CONCLUSIONS: GH may improve AH in UTS patients even when started late. The individual growth response could be estimated by the descriptive Model PredAH independent of age at treatment start.


Asunto(s)
Estatura/efectos de los fármacos , Hormona de Crecimiento Humana/administración & dosificación , Síndrome de Turner/tratamiento farmacológico , Síndrome de Turner/fisiopatología , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , Alemania , Humanos , Estudios Retrospectivos
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