RESUMEN
INTRODUCTION: Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles. PATIENTS' REPORT: We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene. DISCUSSION AND CONCLUSION: Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns' genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.
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Hiperplasia Suprarrenal Congénita , Pubertad Precoz , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/genética , Femenino , Genitales , Humanos , Recién Nacido , Mutación , Tamizaje Neonatal , Esteroide 21-HidroxilasaRESUMEN
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. The most common form of CAH is caused by mutations in CYP21A, the gene encoding the adrenal steroid 21-hydroxylase enzyme. Deficiency of the enzyme leads to life-threatening adrenocortical insufficiency, which is not demonstrable during the first days of life. Additionally, some of the affected neonates have varying degrees of pathology of the external genitalia, classified as disorders of sex development (DSD). These make it difficult to recognize the sex of the affected neonate or lead to incorrect sex assignment . CAH has been included in neonatal screening programs in many countries of the world since the late of 1970s. The main benefit of the screening is early diagnosis and prevention of neonatal mortality in children with salt-wasting CAH. Early recognition of the disease is also helpful in correct sex assignment of DSD neonates. In 2016 Poland joined the group of countries which conduct neonatal screening for 21-hydroxylase deficient CAH and the condition is now included in the neonatal screening program. Therefore, it is possible to recognize the disease soon after birth in all Polish newborns and to start the prompt replacement steroid therapy. As the information on the suspicion or diagnosis of CAH in very young newborns has recently reached neonatologists, pediatricians, and general practitioners, and not only pediatric endocrinologists, the aim of this paper is to deliver the most necessary information on the disease to a wider group of doctors, not familiar with CAH.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Tamizaje Neonatal , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/patología , Diagnóstico Precoz , Femenino , Humanos , Recién Nacido , Masculino , Polonia , Guías de Práctica Clínica como AsuntoRESUMEN
OBJECTIVES: To assess the cognitive, social, and emotional function in girls prenatally treated with dexamethasone (Dex) due to congenital adrenal hyperplasia (CAH), compared to CAH female patients not treated prenatally. PATIENTS AND METHODS: 33 girls from CAH families were studied: 17 girls treated prenatally with Dex (9 CAH-affected and 8 non-CAH-affected) and 16 CAH-affected females prenatally untre-ated. Standardized tests to assess cognitive function, tests of memory and learning process, and the Child Behavior Checklist (CBCL) were used. RESULTS: There were few statistically significant differences between the results of treated girls (CAH-affected and unaffected) and CAH untreated patients, with a tendency for better results in all tests by Dex treated girls. Among three groups- "CAH-unaffected treated," "CAH-affected treated," and "CAH-affected untreated"- the best results were found in "CAH-affected treated" in almost all tests. The Wechsler test performance scale was significantly higher in treated CAH-affected girls. The comparison between treated and untreated CAH-affected girls revealed better results in all tasks involving the cognitive function in Dex-treated patients. Poor performance in visual perception, analysis of spatial material, and visual memory tasks were obtained in CAH-unaffected treated girls. CONCLUSIONS: Prenatal treatment with Dex creates for CAH-affected females better conditions for cognitive development. The prenatal Dex in CAH-unaffected girls can cause the risk of unfavorable influences on the development of some cognitive functions. Therefore, it is recommended that prenatal treatment in CAH-unaffected female fetuses should be stopped as soon as possible after the exclusion of the disease.
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Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/psicología , Conducta Infantil , Cognición/efectos de los fármacos , Dexametasona/administración & dosificación , Dexametasona/efectos adversos , Glucocorticoides/administración & dosificación , Glucocorticoides/efectos adversos , Efectos Tardíos de la Exposición Prenatal , Conducta Social , Niño , Desarrollo Infantil/efectos de los fármacos , Esquema de Medicación , Femenino , Humanos , Masculino , Memoria/efectos de los fármacos , EmbarazoRESUMEN
UNLABELLED: Prader-Willi syndrome is a genetic disorder. Abnormal saliva secretion, emotional and behaviour problems, may affect the health status of the oral mucousa. OBJECTIVES: To assess the impact of self-destructive behaviour and abnormal saliva secretion on the oral mucosa in children with Prader-Willi syndrome (PWS). MATERIALS AND METHODS: Fifteen PWS's children (mean age 9.8 ± 4.4 years) and 15 healthy children (mean age 11.5 ± 3.5 years) were assessed for self-destructive behaviours, such as picking at the skin, physical and chemical saliva characteristics, mycology, and the clinical status of the oral mucosa. RESULTS: Picking at the skin was only in children with PWS (n = 12). In contrast to the control group, the moistening rate of the lower lip mucosa was slower, and the mean pH of the resting saliva was reduced in the affected subjects. Sticky frothy or frothy saliva, decreased secretion rate of the stimulated saliva, and a reduced buffer capacity were more frequently in PWS's children; Candida spp. and oral candidiasis were also more common. Injurious lesions in the oral mucosa were found in one control child, and in eight PWS's subjects. In affected children, the lesions were concurrent with picking at the skin. A statistical correlation was noted between the presence of Candida spp. and oral candidiasis, and unfavourable saliva properties, and between injurious lesions and a slow moistening rate of the lower lip mucosa, and oral candidiasis. CONCLUSIONS: Abnormal saliva secretion and self-destructive behaviours in children with Prader-Willi syndrome predispose them to injurious lesions in the oral mucosa, and possibly, to oral candidiosis.
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Enfermedades de la Boca/etiología , Mucosa Bucal/lesiones , Síndrome de Prader-Willi/complicaciones , Adolescente , Mordeduras Humanas/complicaciones , Mordeduras Humanas/psicología , Tampones (Química) , Candida/clasificación , Candidiasis Bucal/etiología , Niño , Preescolar , Recuento de Colonia Microbiana , Femenino , Humanos , Concentración de Iones de Hidrógeno , Masculino , Síndrome de Prader-Willi/psicología , Saliva/química , Saliva/metabolismo , Saliva/microbiología , Tasa de Secreción/fisiología , Conducta Autodestructiva/complicaciones , Xerostomía/etiologíaRESUMEN
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis. Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone [17-OHP] and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment. Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed. Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary. Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.
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Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/terapia , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/enzimología , Hiperplasia Suprarrenal Congénita/genética , Adulto , Femenino , Glucocorticoides/uso terapéutico , Humanos , Síndrome Metabólico/etiología , Calidad de Vida , Esteroide 21-Hidroxilasa/metabolismoRESUMEN
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis. Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment. Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed. Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary. Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.
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Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Glucocorticoides/uso terapéutico , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Hiperplasia Suprarrenal Congénita/complicaciones , Hiperplasia Suprarrenal Congénita/diagnóstico , Adulto , Anciano , Androstenodiona/sangre , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Calidad de Vida , Esteroide 21-Hidroxilasa/sangre , Adulto JovenRESUMEN
UNLABELLED: In males AMH is produced by the testes from fetal life to puberty. The main role of AMH in the male fetus is to cause Müllerian duct regression, in prepubertal boys AMH is involved in testicular development and function. THE AIM OF THIS STUDY was to assess the use of a sensitive assay kit of AMH measurements in the diagnosis and management of children with abnormal sexual differentiation and cryptorchidism. We also compared the serum AMH levels with testosterone levels after hCG stimulation. METHODS: We assessed serum AMH levels in 79 prepubertal patients: gonadal dysgenesis (n=23), partial androgen insensitivity (n=4), scrotal hypospadiasis (n=16), bilateral cryptorchidism (n=20), anorchia (n=10) and unilateral cryptorchidism (n=6). Earlier hCG test was performed (one dose of 2000 IU/m2 i.m.) and testosterone levels were determined. RESULTS: AMH level was not impaired in patients with unilateral cryptorchidism and partial androgen insensitivity (median 350 pmol/l). AMH was normal in most of boys with scrotal hypospadiasis (median 317 pmol/l). Significant differences were observed between AMH levels in boys with hypospadias and patients with gonadal dysgenesis (median 174 pmol/l; p<0,001). In the cryptorchid group AMH level was normal in 50% of boys. There was a significant difference between AMH levels in cryptorchid boys (median 249.5 pmol/l) and patients with anorchia; (p<0,001). AMH levels were almost undetectable in boys with vanishing testes (median 1.0 pmol/l). The basal AMH levels were correlated with testosterone response to hCG. CONCLUSIONS: When testes are non-palpable a single measurement of serum AMH level can distinguish between cryptorchidism and anorchia. AMH determination can help in the diagnosis of intersex conditions. Our data demonstrated that basal AMH measurements correlate with testosterone response to hCG. Serum AMH concentration in prepubertal children is a marker of testicular function. Preoperative measurement of AMH can be useful in the management of children with cryptorchidism and intersex disorders.
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Trastornos del Desarrollo Sexual/sangre , Trastornos del Desarrollo Sexual/fisiopatología , Glicoproteínas/sangre , Pubertad Tardía/sangre , Pubertad Precoz/sangre , Hormonas Testiculares/sangre , Testículo/fisiopatología , Hormona Antimülleriana , Biomarcadores , Preescolar , Gonadotropina Coriónica , Criptorquidismo/sangre , Criptorquidismo/patología , Trastornos del Desarrollo Sexual/patología , Humanos , Masculino , Testículo/fisiología , Testosterona/sangreRESUMEN
BACKGROUND: Insulin resistance--a key element of the metabolic syndrome--is observed in children with simple obesity. Adipose tissue is producing bioactive substances called adipocytokines. Some of them may play a role in the development of insulin resistance. AIM OF THE STUDY: Estimation of the frequency of insulin resistance and its correlation with leptin, adiponectin and resistin levels in children with simple obesity. MATERIAL AND METHODS: The 53 children (BMI>97 centile), mean age 13.57 years. Mean BMI was +4.04 SDS. Oral glucose tolerance test (OGTT) was performed. Insulin levels at 0' < or = 15 microIU/mL and/or insulin peak during OGTT < or = 150 microIU/mL and/or peak at 120' < or =75 microIU/mL were established as normal values. Homa ratio was calculated. Patients were divided into groups depending on the presence or absence of hyperinsulinemia / insulin resistance. Concentrations of adiponectin, leptin, resistin were measured. RESULTS: In 13.23 % children various types of hyperglycemia were diagnosed and hyperinsulinemia in OGTT was noted in 83.02 %. Severe insulin resistance (HOMA>3) was diagnosed in 71.82 %. In the hyperinsulinemia group higher glucose levels in OGTT were stated comparing to the non hyperinsulinemia group. In children with insulin resistance, higher BMI and SD BMI were observed. In this paper results of correlations of adipocytokines levels and anthropometric parameters or carbohydrates metabolism in children with / without insulin resistance are presented. CONCLUSIONS: In children with severe insulin resistance adiponectin concentrations correlate negatively with glucose levels, there is a positive correlation of adiponectin and glucose and insulin in a group without severe insulin resistance. In patients with insulin resistance leptin concentrations correlate positively with the degree of obesity and insulin levels in OGTT.
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Adiponectina/sangre , Hormonas Ectópicas/sangre , Resistencia a la Insulina/fisiología , Leptina/sangre , Obesidad/sangre , Resistina/sangre , Tejido Adiposo/metabolismo , Adolescente , Índice de Masa Corporal , Niño , Femenino , Humanos , Péptidos y Proteínas de Señalización Intercelular , Masculino , Análisis de Regresión , Sensibilidad y Especificidad , Estadística como AsuntoRESUMEN
The main method of treatment of adrenocortical tumours is surgery. The efficacy of the mitotane therapy is still controversial with many serious side effects of the therapy. Moreover, patients receiving mitotane should be carefully monitored for adrenal insufficiency and usually require long-term hormone replacement therapy. We present a rare case of normalisation of the contralateral adrenal function after long-term mitotane therapy as a post-surgical treatment of the adrenocortical tumour.