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1.
Ital J Pediatr ; 47(1): 5, 2021 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-33413516

RESUMO

BACKGROUND: Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous gain of function mutation was described in a 3.5 years-old girl. No other cases have been reported yet. This study performs a molecular screening in girls with early onset CPP (breast budding before 6 years of age) to identify possible alterations in PROKR2. METHODS: We analysed DNA of 31 girls with idiopathic CPP diagnosed via basal LH levels > 0.3 IU/L or peak-LH > 5 IU/L after stimulation, without any MKRN3 mutations. The Fisher exact test was used to compare polymorphism allele frequency to corresponding ones in genome aggregation database (gnomAD). RESULTS: No rare variants were identified. Five polymorphisms were found (rs6076809, rs8116897, rS3746684, rs3746682, rs3746683). All except one (i.e. rs3746682) had a minor allele frequency (MAF) similar to that reported in literature. rs3746682 presented a MAF higher than that described in the gnomAD (0.84 in our cohort vs 0.25 from gnomAD). CONCLUSIONS: As for other G protein-coupled receptors (i.e. GPR54), mutations in PROKR2 do not seem to be a frequent cause of CPP in girls.


Assuntos
Mutação/genética , Polimorfismo Genético/genética , Puberdade Precoce/genética , Receptores Acoplados a Proteínas-G/genética , Receptores de Peptídeos/genética , Pré-Escolar , Estudos de Coortes , Feminino , Testes Genéticos , Humanos , Lactente , Itália , Puberdade Precoce/diagnóstico
2.
Ital J Pediatr ; 46(1): 165, 2020 Nov 04.
Artigo em Inglês | MEDLINE | ID: mdl-33148304

RESUMO

BACKGROUND: The timing of puberty in girls is occurring at an increasingly early age. While a positive family history is recognised as a predisposing factor for early or precocious puberty, the role of environmental factors is not fully understood. AIMS OF THE STUDY: To make a retrospective evaluation of the incidence of newly diagnosed central precocious puberty (CPP) and the rate of pubertal progression in previously diagnosed patients during and after the Italian lockdown for COVID-19, comparing data with corresponding data from the previous 5 years. To determine whether body mass index (BMI) and the use of electronic devices increased during lockdown in these patients. PATIENTS AND METHODS: The study included 49 females with CPP. We divided the patients into two groups: group 1, patients presenting a newly diagnosed CPP and group 2, patients with previously diagnosed slow progression CPP whose pubertal progression accelerated during or after lockdown. We collected auxological, clinical, endocrinological and radiological data which were compared with data from two corresponding control groups (patients followed by our Unit, March to July 2015-2019). Patients' families completed a questionnaire to assess differences in the use of electronic devices before and during lockdown. RESULTS: Thirty-seven patients presented newly diagnosed CPP (group 1) and 12, with previously diagnosed but untreated slow progression CPP presented an acceleration in the rate of pubertal progression (group 2). The number of new CPP diagnoses was significantly higher than the mean for the same period of the previous 5 years (p < 0.0005). There were no significant differences between patients in group 1 and control group 1 regarding time between appearance of B2 and CPP diagnosis, although group 1 patients had a significantly earlier chronological age at B2, a more advanced Tanner stage at diagnosis (p < 0.005), higher basal LH and E2 levels, higher LH peak after LHRH test (p < 0.05) and increased uterine length (p < 0.005) and ovarian volume (p < 0.0005). The number of patients with previously diagnosed CPP whose pubertal development accelerated was also statistically higher compared to controls (p < 0.0005). In this group, patients' basal LH (p < 0.05) and E2 levels (p < 0.0005) became more markedly elevated as did the LH peak after LHRH test (p < 0.05). These patients also showed a significantly accelerated progression rate as measured by the Tanner scale (p < 0.0005), uterine length (p < 0.005), and ovarian volume (p < 0.0005). In both group 1 and group 2, BMI increased significantly (p < 0.05) and patients' families reported an increased use of electronic devices (p < 0.0005). CONCLUSION: Our data show an increased incidence of newly diagnosed CPP and a faster rate of pubertal progression in patients with a previous diagnosis, during and after lockdown compared to previous years. We hypothesize that triggering environmental factors, such as the BMI and the use of electronic devices, were enhanced during lockdown, stressing their possible role in triggering/influencing puberty and its progression. However, more studies are needed to determine which factors were involved and how they interacted.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Pandemias , Pneumonia Viral/epidemiologia , Puberdade Precoce/epidemiologia , Puberdade , Isolamento Social , Índice de Massa Corporal , Criança , Feminino , Humanos , Incidência , Itália/epidemiologia , Puberdade Precoce/diagnóstico , Estudos Retrospectivos
3.
Medicine (Baltimore) ; 99(38): e22295, 2020 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-32957387

RESUMO

RATIONALE: Central precocious puberty (CPP) is caused by the premature activation of the hypothalamic-pituitary-gonadal axis. Recently, the makorin ring finger protein 3 (MKRN3) mutations represent the most common genetic defects associated with CPP. However, the MKRN3 mutation is relatively rare in Asian countries. Here, we identified a novel heterozygous MKRN3 nonsense mutation (p. Gln363) causing CPP in a Chinese girl. PATIENT CONCERNS: The index case is a 7-year-old Chinese girl who presented rapidly progressive precocious puberty with the onset of menstrual period 2 months after breast development, the advanced bone age (11 years), and the accelerated growth velocity (10 cm/year). Her basal luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels, as well as the peak LH/FSH values after the gonadotropin-releasing hormone (GnRH) stimulation test were significantly elevated.Pelvic B ultrasound showed the presence of ovarian follicles with diameters ≥0.4 cm. Uterine length also indicated the onset of puberty. Contrast-enhanced magnetic resonance imaging (MRI) did not disclose any abnormality in the pituitary. Additionally, our present case was obese companies with impaired glucose tolerance (IGT) at the baseline assessment. Genetic analysis revealed a novel heterozygous nonsense mutation (c1087C>T; p. Gln363) in the maternally imprinted MKRN3, which inherited from the girl's father. DIAGNOSIS: Combined with the symptoms, hormonal data, and the results of the pelvic B ultrasound, the girl was diagnosed as CPP. INTERVENTIONS: The girl has been treated with a GnRH analog (3.75 mg every 4 wks) for 1 year and 5 months. OUTCOMES: The puberty signs have since not progressed during the follow-up period, which indicates that the GnRH analogs treatment is effective. LESSONS: This case was obese companied with IGT at the baseline assessment and exhibited stronger LH/FSH response to GnRH stimulation test. Therefore, clinicians should highlight the importance of weight management and the long-term follow-up to monitor the adverse health outcomes, especially for the polycystic ovary syndrome in later life.


Assuntos
Puberdade Precoce/genética , Ubiquitina-Proteína Ligases/metabolismo , Criança , Feminino , Hormônio Liberador de Gonadotropina/uso terapêutico , Humanos , Mutação , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico
4.
Arch Endocrinol Metab ; 64(2): 121-127, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32236310

RESUMO

Objective To determine whether first-voided urinary LH (FV-ULH) - level measurement can adequately assess pubertal suppression as much as standard tests can. Subjects and methods The study group included patients with central precocious puberty and rapidly progressing early puberty who received up to 3 - 4 doses of GnRHa therapy monthly and did not have adequate hormonal suppression after GnRH stimulation (90-minute LH level > 4 IU/L). Design: All of the participants underwent an LHRH test just after admission to the study. According to the stimulated peak LH levels, the patients were divided into 2 groups and followed until the end of the first year of treatment. The concordance between FV-ULH and stimulated LH levels was assessed. Results The FV-ULH levels in patients with inadequate hormonal suppression were significantly high compared to patients with adequate hormonal suppression. FV-ULH levels were very strongly correlated with stimulated LH levels (r = 0.91). Its correlation with basal LH levels was significant (r = 0.65). However, this positive correlation was modestly weakened after the first year of treatment. The cutoff value for FV-ULH of 1.01 mIU/mL had the highest sensitivity (92.3%) and specificity (100%). Conclusion FV-ULH levels, using more reliable and sensitive assay methods, can be used to monitor the adequacy of GnRHa therapy.


Assuntos
Hormônio Liberador de Gonadotropina/administração & dosagem , Leuprolida/administração & dosagem , Hormônio Luteinizante/urina , Puberdade Precoce/diagnóstico , Pamoato de Triptorrelina/administração & dosagem , Criança , Feminino , Humanos , Masculino , Estudos Prospectivos , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/urina , Curva ROC , Sensibilidade e Especificidade , Resultado do Tratamento
6.
Ital J Pediatr ; 45(1): 166, 2019 Dec 19.
Artigo em Inglês | MEDLINE | ID: mdl-31856872

RESUMO

BACKGROUND: Premature thelarche (PT) is a benevolent ailment affecting young girls. Multiple factors are reported to correlate with this condition, but the mechanisms responsible for the onset of PT have not yet been fully investigated. This study aimed to evaluate the relationship of nutrient intake, insulin resistance and lipid profile with PT. METHODS: Two hundred sixty-three girls with PT, and 222 healthy girls of similar age were enrolled into this study. Their demographics, Tanner stage of breast development, nutrient intake, insulin resistance and lipid profiles were compared. RESULTS: Daily protein and fat intakes, insulin resistance parameters including serum insulin-like growth factor 1, fasting glucose to insulin ratio, quantitative insulin check index and homeostasis model of assessment of insulin resistance, as well as serum levels of triacylglycerol, total cholesterol and low-density lipoprotein, were all significantly altered in PT patients. Daily intake of energy and carbohydrate, and serum level of high-density lipoprotein protein were statistically indistinguishable between PT patients and healthy controls. CONCLUSION: Chinese girls with PT are potentially insulin resistant, which warrants more clinical attention and further investigation to address the underlying etiology.


Assuntos
Glicemia/metabolismo , Resistência à Insulina/fisiologia , Insulina/sangue , Metabolismo dos Lipídeos , Puberdade Precoce/diagnóstico , Fatores Etários , Estudos de Casos e Controles , Criança , China , Ingestão de Energia , Feminino , Humanos , Nutrientes/metabolismo , Valores de Referência , Medição de Risco , Estatísticas não Paramétricas
7.
Clin Pediatr (Phila) ; 58(13): 1429-1435, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31522545

RESUMO

Foot growth is part of overall pubertal growth but its relation to other anthropometric and hormonal changes is unclear. Our objective was to determine how foot length changes relate to changes in other growth parameters (height and weight), Tanner stage, and serum hormones. Adolescents (n = 342) were recruited to a 3-year longitudinal cohort study, underwent annual anthropometric assessments (height, weight, and foot length), and provided self-rated Tanner staging. They also provided blood samples that were analyzed using liquid chromatography-tandem mass spectrometry for serum testosterone and estradiol and classified as pre-pubertal or pubertal based on circulating hormone levels. Average annual percent increase in foot length was greater for pre-pubertal adolescents compared with pubertal. Increased foot length was associated with increases in height, weight, Tanner stage, and serum hormones in males and pre-menarcheal females but not post-menarcheal females. Foot length offers a novel, noninvasive, cost-effective, and easily demonstrable marker of early pubertal changes.


Assuntos
Pé/crescimento & desenvolvimento , Puberdade Precoce/diagnóstico , Antropometria , Biomarcadores/sangue , Estatura , Peso Corporal , Criança , Estradiol/sangue , Feminino , Humanos , Estudos Longitudinais , Masculino , Puberdade Precoce/sangue , Testosterona/sangue
8.
Endocrinol. diabetes nutr. (Ed. impr.) ; 66(7): 410-416, ago.-sept. 2019. tab
Artigo em Espanhol | IBECS | ID: ibc-182860

RESUMO

Introducción: Existen diversas controversias respecto a las pruebas diagnósticas y tratamiento de la pubertad precoz central (PPC). El objetivo de este estudio es exponer las experiencias adquiridas en un grupo de niñas con PPC tratadas con triptorelina, analizándose las características auxológicas y pruebas diagnósticas. Materiales y métodos: Estudio observacional retrospectivo en un grupo de 60 niñas con PPC atendidas entre 2010 y 2017. Al diagnóstico se registraron datos sociodemográficos, auxológicos y hormonales, realizándose ecografía pélvica y resonancia craneal. Fueron tratadas con triptorelina, y tras su retirada fueron seguidas hasta la menarquia. Resultados: Al iniciar el tratamiento, la edad cronológica y edad ósea eran de 7,7±0,7 y 9,7±0,8 años, respectivamente (media±DE), con una velocidad de crecimiento de 8,3±1,6cm/año. La talla diana era de 161,1±5,8cm. El pico de LH tras estimulación era de 16,6±12,1 UI/l. El volumen ovárico era superior a 3 cc en el 35% de los casos. La resonancia magnética craneal fue patológica en 7 casos (11,7%). Al final del tratamiento, la edad cronológica y la edad ósea eran de 10,3±1,1 y 11,2±0,8 años, respectivamente, con una velocidad de crecimiento de 4,7±1,4cm/año. A la edad de la menarquia (11,9±0,9 años), la talla era de 157,5±5,7cm. Conclusiones: El tratamiento de la PPC con triptorelina parece resultar beneficioso. La posibilidad de bloquear el desarrollo puberal y ralentizar la maduración ósea permiten que las pacientes alcancen su talla diana. No obstante, sería preceptiva una monitorización auxológica personalizada


Introduction: There are several controversies regarding the diagnostic tests and management of central precocious puberty (CPP). The aim of this study is to present the experience acquired in a group of girls with CPP treated with triptorelin, and to analyze the auxological characteristics and diagnostic tests. Material and methods: An observational, retrospective study in a group of 60 girls with CPP was conducted between January 2010 and December 2017. Sociodemographic, auxological and hormonal data were recorded at diagnosis, and pelvic ultrasound and magnetic resonance imaging of the head were performed. Girls were treated with triptorelin and monitored after treatment discontinuation until menarche. Results: At treatment start, chronological age and bone age were 7.7±0.7 and 9.7±0.8 years respectively, and growth velocity was 8.3±1.6cm/year. Target height was 161.1±5.8cm. Peak LH level after stimulation was 16.6±12.1 IU/l. Ovarian volumes were greater than 3mL in 35% of cases. MRI of the head was pathological in seven girls (11.7%). At treatment completion, chronological age and bone age were 10.3±1.1 and 11.2±0.8 years respectively, and growth velocity was 4.7±1.4cm/year. At the age of menarche (11.9±0.9 years), height was 157.5±5.7cm. Conclusions: Treatment of CPP with triptorelin appears to be beneficial. The possibility to block pubertal development and slow skeletal maturation allows patients to reach their target height. However, individualized auxological monitoring would be mandatory


Assuntos
Humanos , Feminino , Criança , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Pamoato de Triptorrelina/administração & dosagem , Pamoato de Triptorrelina/uso terapêutico , Pelve/diagnóstico por imagem , Crânio/diagnóstico por imagem , Espectroscopia de Ressonância Magnética , Menarca/efeitos dos fármacos , Estudos Longitudinais
9.
Artigo em Inglês | MEDLINE | ID: mdl-31343141

RESUMO

We present a rare occurrence of precocious puberty (PP) probably due to an autonomous ovarian cyst in a 15-month-old girl who presented to us with growth spurt, breast and pubic hair development, and vaginal bleeding over the last few months. The clinical presentation was suggestive of central precocious puberty (CPP). However, the rapid progression of pubertal changes and occurrence of menarche at breast Tanner stage 2 indicated peripheral precocious puberty (PPP). Due to uncertainty of clinical diagnosis, investigations were conducted for CPP as well as PPP. The basal and peak stimulated LH concentrations were < 0.3 IU/l and < 2 IU/l, respectively, indicating PPP. However, the peak LH : FSH ratio was > 1, which is consistent with CPP. Abdominal imaging revealed an ovarian mass, which was laparoscopically excised, but the true nature of the mass could not be ascertained because the excised specimen showed only haemorrhage and features of ovarian torsion on histopathological examination. Regression of pubertal development occurred over a three-month period postoperatively.


Assuntos
Cistos Ovarianos/complicações , Puberdade Precoce/etiologia , Feminino , Humanos , Índia , Lactente , Cistos Ovarianos/diagnóstico , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/cirurgia , Puberdade Precoce/diagnóstico
10.
Ugeskr Laeger ; 181(29)2019 Jul 15.
Artigo em Dinamarquês | MEDLINE | ID: mdl-31315792

RESUMO

Precocious puberty (PP) in girls is common and mostly idiopathic due to precocious activation of the gonadotropic axis. In this review, we find it important to distinguish the normal variant of slightly early puberty from rapidly progressive cases. Abnormal harmony of puberty more likely warrants a pathological condition. In girls aged about eight years with confirmed idiopathic PP, observation for 3-6 months is reasonable in order to identify clinically progressive cases, who will benefit from intervention with an gonadotropin-releasing hormone agonist.


Assuntos
Puberdade Precoce , Criança , Feminino , Hormônio Liberador de Gonadotropina , Humanos , Puberdade Precoce/diagnóstico , Maturidade Sexual
11.
Horm Res Paediatr ; 91(6): 357-372, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31319416

RESUMO

This update, written by authors designated by multiple pediatric endocrinology societies (see List of Participating Societies) from around the globe, concisely addresses topics related to changes in GnRHa usage in children and adolescents over the last decade. Topics related to the use of GnRHa in precocious puberty include diagnostic criteria, globally available formulations, considerations of benefit of treatment, monitoring of therapy, adverse events, and long-term outcome data. Additional sections review use in transgender individuals and other pediatric endocrine related conditions. Although there have been many significant changes in GnRHa usage, there is a definite paucity of evidence-based publications to support them. Therefore, this paper is explicitly not intended to evaluate what is recommended in terms of the best use of GnRHa, based on evidence and expert opinion, but rather to describe how these drugs are used, irrespective of any qualitative evaluation. Thus, this paper should be considered a narrative review on GnRHa utilization in precocious puberty and other clinical situations. These changes are reviewed not only to point out deficiencies in the literature but also to stimulate future studies and publications in this area.


Assuntos
Hormônio Liberador de Gonadotropina/uso terapêutico , Puberdade Precoce , Adolescente , Criança , Feminino , Humanos , Masculino , Puberdade Precoce/diagnóstico , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/patologia , Puberdade Precoce/fisiopatologia
12.
Neuropediatrics ; 50(5): 327-331, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31319423

RESUMO

The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related to a wide spectrum of clinical manifestations, such as alpha thalassemia, developmental delay, genital abnormalities, and gastrointestinal disorders. Patients with ATR-X syndrome can suffer from different types of epileptic seizures, but a severe epileptic encephalopathy pattern has not been described to date. We describe, for the first time, two brothers with genetically confirmed ATR-X syndrome who presented with drug-resistant epileptic encephalopathy, with tonic and polimorphic seizures reported in the elder brother and epileptic spasms in the younger brother. Moreover, both brothers showed a peculiar movement disorder with myoclonus-dystonia, worsened during periods of distress or pain. These cases expand the clinical spectrum of ATR-X syndrome and open new opportunities for the molecular diagnosis of ATRX mutations in male patients with severe epileptic encephalopathies and movement disorders.


Assuntos
Distúrbios Distônicos/diagnóstico , Epilepsias Mioclônicas/diagnóstico , Retardo Mental Ligado ao Cromossomo X/diagnóstico , Puberdade Precoce/diagnóstico , Proteína Nuclear Ligada ao X/genética , Talassemia alfa/diagnóstico , Criança , Distúrbios Distônicos/complicações , Distúrbios Distônicos/genética , Epilepsias Mioclônicas/complicações , Epilepsias Mioclônicas/genética , Humanos , Masculino , Retardo Mental Ligado ao Cromossomo X/complicações , Retardo Mental Ligado ao Cromossomo X/genética , Mutação , Puberdade Precoce/complicações , Puberdade Precoce/genética , Irmãos , Talassemia alfa/complicações , Talassemia alfa/genética
13.
Horm Res Paediatr ; 91(5): 293-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31302655

RESUMO

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.


Assuntos
Acromegalia/diagnóstico , Transtornos do Crescimento/diagnóstico , Puberdade Precoce/diagnóstico , Acromegalia/etiologia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Puberdade Precoce/etiologia
15.
BMJ Case Rep ; 12(6)2019 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-31217210

RESUMO

A 7-year-8-month-old boy with cardiofaciocutaneous syndrome caused by the D638E mutation of the B-Raf proto-oncogene (BRAF) presented with new-onset seizures. He was incidentally found to have advanced Tanner staging on physical examination. Hormonal testing revealed pubertal levels of gonadotropins and sex steroid hormones. On brain imaging, a lack of visualisation of the posterior pituitary bright spot was observed, in addition to mild thinning of the corpus callosum and the lateral gyri of the cerebellar hemispheres. A diagnosis of idiopathic central precocious puberty was made and the patient was started on leuprolide depot treatment. Pituitary hormone testing revealed hyperprolactinemia for which the patient did not receive treatment as he was asymptomatic. During a subsequent hospital admission for seizures, the patient was diagnosed with transient central diabetes insipidus for which he required treatment with a desmopressin infusion.


Assuntos
Diabetes Insípido Neurogênico/tratamento farmacológico , Displasia Ectodérmica/diagnóstico , Insuficiência de Crescimento/diagnóstico , Cardiopatias Congênitas/diagnóstico , Proteínas Proto-Oncogênicas B-raf/genética , Puberdade Precoce/diagnóstico , Convulsões/tratamento farmacológico , Antineoplásicos Hormonais/uso terapêutico , Criança , Desamino Arginina Vasopressina/uso terapêutico , Diabetes Insípido Neurogênico/fisiopatologia , Displasia Ectodérmica/tratamento farmacológico , Displasia Ectodérmica/genética , Displasia Ectodérmica/fisiopatologia , Facies , Insuficiência de Crescimento/tratamento farmacológico , Insuficiência de Crescimento/genética , Insuficiência de Crescimento/fisiopatologia , Cardiopatias Congênitas/tratamento farmacológico , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/fisiopatologia , Hemostáticos/uso terapêutico , Humanos , Leuprolida/uso terapêutico , Masculino , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/genética , Puberdade Precoce/fisiopatologia , Convulsões/fisiopatologia , Resultado do Tratamento
16.
J Pediatr Endocrinol Metab ; 32(6): 577-583, 2019 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-31141486

RESUMO

Background Delayed puberty and hypogonadism are common in children with chronic kidney disease and in renal transplant recipients, but precocious puberty has rarely been reported in these populations. We describe six girls with precocious and/or early-onset, rapidly progressive puberty before and following renal transplantation. Methods Of 112 children under the age of 18 years (67 boys, 45 girls) who received renal transplants between 2010 and 2018, six girls presented with precocious or rapidly progressive early puberty at ages 6-7/12, 7-2/12, 7-4/12, 8, 8-8/12 and 8-11/12 years. Clinical evaluation included measurements of height, weight, body mass index (BMI), Tanner staging and bone age assessment. Gonadotropin responses to intravenous gonadotropin releasing hormone (GnRH) or intramuscular triptorelin acetate were determined. Results Tanner breast stage 3 was noted at 2-6 years following renal transplantation in five girls, four with preserved kidney function. One girl began puberty before renal transplantation. Peak luteinizing hormone (LH) and follicular stimulating hormone (FSH) levels were 6.5, 20.2, 7.83, 19.1, 9 and 2.2 mIU/mL and 13, 8.3, 8.01, 7.5, 8.1 and 7.7 mIU/mL, respectively. Treatment with an intramuscular slow-release formulation of triptorelin acetate every 4 weeks slowed progression of breast development. Conclusions Although delayed puberty is more common in children with renal disease, precocious puberty can also be seen. Evaluation of growth and puberty by a pediatric endocrinologist should be part of the routine care for all children following kidney transplantation.


Assuntos
Biomarcadores/análise , Falência Renal Crônica/cirurgia , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias , Puberdade Precoce/etiologia , Maturidade Sexual , Estatura , Peso Corporal , Criança , Estradiol/sangue , Feminino , Humanos , Hormônio Luteinizante/sangue , Prognóstico , Puberdade Precoce/sangue , Puberdade Precoce/diagnóstico
17.
BMC Pediatr ; 19(1): 107, 2019 04 11.
Artigo em Inglês | MEDLINE | ID: mdl-30975105

RESUMO

BACKGROUND: To investigate the prevalence and risk factors of premature thelarche (PT) in girls and gynecomastia (GM) in boys in Southern China. METHODS: We conducted a cross-sectional study of preschool children across 9 cities in Zhejiang province. A total of 6273 children in the age-group of 2-7 years were recruited from January 2014 to March 2015. Relevant information was collected from mothers through face-to-face interviews. Logistic regression models were used to examine the correlates of PT and GM. Odds ratios (ORs) with 95% confidence intervals (CIs) are reported. RESULTS: The prevalence of PT among girls was 4.8% and that of GM among boys was 0.8%. One hundred girls were diagnosed with PT before the age of 2 years; 69 (69.0%) of these girls experienced spontaneous resolution of PT. Twenty-four boys were diagnosed with GM before the age of 2 years; 10 (41.7%) of these experienced spontaneous resolution of GM. Children borne of mothers with early onset of menarche and those belonging to high-income families were at a higher risk of premature breast development. Greater consumption of eggs was associated with premature breast development in early childhood. CONCLUSIONS: Socioeconomic status of family, early onset of menarche in mother, and consumption of eggs were strongly associated with premature breast development in early childhood.


Assuntos
Ginecomastia/epidemiologia , Menarca , Puberdade Precoce/epidemiologia , Medição de Risco/métodos , Distribuição por Idade , Criança , Pré-Escolar , China/epidemiologia , Estudos Transversais , Feminino , Ginecomastia/diagnóstico , Humanos , Masculino , Prevalência , Puberdade Precoce/diagnóstico , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Classe Social
18.
Best Pract Res Clin Endocrinol Metab ; 33(3): 101273, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31027974

RESUMO

Peripheral precocious puberty results from peripheral production of sex steroids independent of activation of the hypothalamic-pituitary gonadal axis. It is much less common than central precocious puberty. Causes are variable and can be congenital or acquired. In this review, we will discuss the diagnosis and management of the most common etiologies including congenital adrenal hyperplasia, McCune Albright syndrome, familial male-limited precocious puberty, and adrenal and gonadal tumors.


Assuntos
Hiperplasia Suprarrenal Congênita/complicações , Puberdade Precoce/etiologia , Neoplasias das Glândulas Suprarrenais/complicações , Feminino , Displasia Fibrosa Poliostótica/complicações , Humanos , Masculino , Puberdade Precoce/complicações , Puberdade Precoce/diagnóstico , Puberdade Precoce/terapia
19.
BMJ Case Rep ; 12(3)2019 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-30898952

RESUMO

11-year old twin boy found to have idiopathic precocious puberty after routine well-child examination revealed discordant pubertal growth between the two brothers.


Assuntos
Puberdade Precoce/diagnóstico , Gêmeos Dizigóticos , Acne Vulgar , Criança , Gráficos de Crescimento , Cabelo , Humanos , Masculino , Exame Físico
20.
J Clin Res Pediatr Endocrinol ; 11(3): 287-292, 2019 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-30859797

RESUMO

Objective: Antimüllerian hormone (AMH) concentrations in mini puberty are higher than those reported for the prepubertal period. In this study we investigated AMH concentrations in infants with premature thelarche (PT). A healthy control group was used for comparison. Methods: Forty five female infants with PT, aged between one and three years and a control group consisting of 37 healthy girls in the same age range were included in the study. Bone age, pelvic ultrasonography, and concentrations of luteinizing hormone, follicle-stimulating hormone (FSH), estradiol and AMH of the patient group were evaluated. Only serum AMH concentration of the control group was evaluated. Results: Median (range) serum AMH concentrations in the subjects were 1.66 ng/mL (11.85 pmol/L) [0.15-6.32 ng/mL (1.07-45.12 pmol/L)] and were significantly lower (p=0.025) than for the control group; 1.96 ng/mL (13.99 pmol/L) [0.60-8.49 ng/mL (4.28-60.64 pmol/L)]. AMH and FSH were negatively correlated (r=-0.360, p=0.015) in infants with PT. There was no correlation between AMH and uterine size, uterine volume, endometrial thickness, fundocervical ratio, ovarian size or volume, follicle size and follicle number. Conclusion: This is the first study that investigates AMH concentrations in infants with PT. The low AMH levels in these infants and the negative correlation between AMH and FSH suggests that AMH may play a role in suppressing pubertal findings during infancy and that decreased AMH may cause PT in infancy.


Assuntos
Hormônio Antimülleriano/sangue , Biomarcadores/sangue , Puberdade Precoce/sangue , Estudos de Casos e Controles , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Prognóstico , Estudos Prospectivos , Puberdade Precoce/diagnóstico
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