RESUMO
A six years old girl consulted due to mammary development. On physical examination, clitoris enlargement and a tumor localized in the abdominal-pelvic region were observed. Hormonal study disclosed elevated testosterone and estradiol levels. On exploratory laparotomy, a right ovarian tumor was observed and a right salpingo-oophorectomy was performed. The contemporary biopsy informed a disgerminoma, leading to a surgical staging of the tumor. The definitive pathological diagnosis was a juvenile granular cell tumor, limited to the ovary. In the postoperative period, estradiol and testosterone levels returned to normal values and the pseudopuberty reverted. The patient did not receive adjuvant treatment and after three years of follow up, there is no evidence of tumor recidivism
Assuntos
Humanos , Feminino , Neoplasias Ovarianas , Puberdade Precoce , Neoplasias Ovarianas , Laparotomia , Tumor de Células Granulares/patologiaRESUMO
Background: McCune-Albright Syndrome (MAS) is characterized by precocious puberty, "cafe au lait" skin lesions and polyostotic fibrous dysplasia. It is caused by 4 post-zygotic mutations of Gas protein with a mosaic distribution. Aim: To describe the clinical presentation and to investigate the presence of the Arg by his substitution (R201H) in 14 girls with MAS. Patients and methods: We performed a clinical analysis of the patients and specific allele PCR in DNA obtained from leukocytes. Results: Twelve of 14 patients presented with precocious puberty, one with cyclical vaginal bleeding and one with pathological bone fractures. Eight girls had polyostotic fibrous dysplasia, one had hyperthyroidism, four had pathological fractures, ten had ovarian cysts, six had breast hyperpigmentation and ten had "cafe au lait" skin lesions. We detected the R2O1H mutation in 10 of 14 patients. We found no difference in the severity of symptoms or in the age of presentation between the patients with and without the mutation. Conclusions: The R201H mutation can be detected in white blood cells, in approximately 70 per cent of cases. Patients exhibit wide clinical variability with the same molecular defect. This suggests that tissues have different proportions of mutant cells
Assuntos
Humanos , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Displasia Fibrosa Poliostótica/genética , Puberdade Precoce , Estudos de Casos e Controles , Reação em Cadeia da Polimerase , Amplificação de Genes/métodosRESUMO
Background: The early diagnosis and therapy of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can prevent adrenal crises and erroneous gender assignment in affected newborns. To achieve this goal neonatal mass-screening programs have been developed, measuring blood 17 alpha-hydroxyprogesterone (17OHP). In Chile there is no experience with this type of screening. Aim: To develop a method for measuring 17OHP in filter paper blood specimens. To obtain reference ranges and determine neonatal 17OHP threshold levels according to gestational age and birth weight. To analyze factors affecting the cost-efficiency ratio and suggest recommendations for the organization of a neonatal screening program for CAH in Chile. Material and methods: Nine hundred twenty two newborns were studied. 17OHP was measured using double antibody radioimmunoassay in filter paper blood samples obtained 48 h after birth. Reference ranges were determined according to gestational age and birth weight and a cutoff point of 25 ng/ml was established. Results: Seventeen newborns had 17OHP over the cutoff value. They were assessed by a pediatric endocrinologist and in none of them, CAH was confirmed. Therefore the false positive rate of the determination was 1.8 percent. Among these newborns with elevated 17OHP, 66 percent had a birth weight below 1.5 kg and 5.8 percent, a birth weight between 1.5 and 2.5 kg. The cost per reported result was US $ l. Timing of the recall was between the 3 and 10 days of life. No newborn missed the follow-up. Discussion: To increase the cost-efficiency ratio of an eventual neonatal screening program, newborns with birth weights below 1.5 kg should be excluded and cutoff points should be defined according to birth weight
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , 17-alfa-Hidroxiprogesterona/sangue , Hiperplasia Suprarrenal Congênita/diagnóstico , Complicações na Gravidez/diagnóstico , Peso ao Nascer , Idade Gestacional , 17-alfa-Hidroxiprogesterona/metabolismo , Diagnóstico Pré-NatalRESUMO
Background: There is paucity of information about bone metabolism during pregnancy or breast feeding in teenagers. Aim: To study bone turnover at the end of pregnancy and during breast feeding in teenagers and correlate it with environmental, hormonal or nutritional variables. Subjects and methods: Thirty teenagers during their breast feeding period after a first pregnancy and 30 nulliparous girls matched for age, age of menarche and body mass index were assessed three weeks after delivery (period 1), at six months of breast feeding (period 2) and one year after the lactating period (period 3). Calcium intake and plasma calcium, phosphorus, alkaline phosphatases, parathormone, estradiol and prolactin were measured. Calcium, creatinine and hydroxyproline were also measured in a morning urine sample. Results: Lactating and control girls were aged 16.3ñ0.8 and 16.1ñ0.7 years old respectively. Calcium intake in lactating and control girls was 798ñ421 and 640ñ346 g/day respectively in period 1, 612ñ352 and 592ñ309 mg/day in period 2 and 495ñ180 and 456ñ157 g/day in period 3. During periods 1 and 2, lactating girls had higher alkaline phosphatases (161ñ37 compared to 119ñ28 U/l and 149ñ37 compared to 106ñ23 U/l), parathormone (4.3ñ2.6 compared to 2.8ñ0.8 ng/dl and 3.6ñ1.6 compared to 3.0ñ0.9 ng/dl) and urinary hydroxyproline (95ñ16 compared to 63ñ15 mg/g creatinine and 84ñ19 compared to 59ñ15 mg/g creatinine). No differences were observed in period 3. No correlation between bone turnover variables, body mass index or hormonal parameters, was observed. Conclusions: In teenagers, there is an increase in bone turnover at the end of pregnancy, that persists during the lactating period. These changes are not related to nutritional or hormonal variables
Assuntos
Humanos , Feminino , Gravidez , Adolescente , Gravidez na Adolescência , Desmineralização Patológica Óssea/epidemiologia , Osteoporose/epidemiologia , Transtornos Puerperais/epidemiologia , Desmame , Aleitamento Materno/efeitos adversos , Fumar/epidemiologia , Período Pós-Parto/sangue , Consumo de Bebidas Alcoólicas/epidemiologia , Hormônios Esteroides Gonadais/sangueAssuntos
Humanos , Hormônio do Crescimento Humano/farmacologia , Somatostatina/farmacologia , Acromegalia/diagnóstico , Acromegalia/tratamento farmacológico , Acromegalia/fisiopatologia , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/etiologia , Crescimento/fisiologia , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/metabolismo , Hormônio do Crescimento Humano/uso terapêutico , Distúrbios Nutricionais/complicaçõesAssuntos
Humanos , Glândula Tireoide/fisiologia , Doenças da Glândula Tireoide/classificação , Hormônios Tireóideos/farmacologia , Glândula Tireoide/anatomia & histologia , Bócio , Doença de Graves/etiologia , Hipotireoidismo , Complicações na Gravidez , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Tireoidite Autoimune/etiologia , Tireoidite/imunologia , TireotoxicoseAssuntos
Humanos , Masculino , Feminino , Adolescente , Puberdade/fisiologia , Transtornos do Desenvolvimento Sexual/classificação , Desenvolvimento Psicossexual/fisiologia , Puberdade Tardia/etiologia , Puberdade Tardia/tratamento farmacológico , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/etiologia , Transtornos do Desenvolvimento Sexual/tratamento farmacológicoAssuntos
Humanos , Masculino , Adolescente , Criança , Feminino , Hipertireoidismo , HipotireoidismoRESUMO
Twenty five patients with salt wasting congenital adrenal hyperplasia, that had 17-hydroxyprogesterone levels above 30 ng/ml, were studied. In all patients, a polymerase chain reaction (PCR) with selective primers was done with extracted genomic DNA, to amplify the active gene and specific primers for normal or mutated alleles of 50 chromosomes of the 25 patients. The higher frequency affected the ASIn2 in 26 percent of cases, followed by mutations Arg357Trp in 22 percent of cases and Gln319Stop in 12 percent and deletion in 12 percent. The frequent genotypes were homozygosity for ASIn2 (16 percent), homozygosity for Arg357Trp (12 percent) and the homozygote deletion of the gene in 12 percent. The most frequent mechanisms of genetic deficiency of 21-hydroxylase were the mutations ASIn2 Arg357Trp. This type of studies allows prenatal diagnosis and genetics counseling