RESUMEN
Paediatric and Adolescent Gynaecology (PAG) is a multidisciplinary field combining aspects of gynaecology but also includes paediatrics, endocrinology, genetics, radiology, psychology and urology. Specialist knowledge is warranted for the care of these youngsters, and it is important that doctors attending to the gynaecological needs of children must understand that they are not just "little women". Their needs and accompanying clinical approaches required are very different from those of adults in this sensitive area, as is the spectrum of diseases and problems. A multidisciplinary collaboration is as important as the establishment and adoption of standards in education, training and management. The situation in Europe in PAG is varied, reflecting the relative youth of this area of special interest and thereby allowing for earlier consolidation of standards and services across Europe. This article summarises the background to PAG in Europe, inequitable current provision of care and issues relating to education and training all of which are relevant in providing a common approach to PAG problems and endeavouring to obtain the best outcomes. There remains huge diversity how the services for "young women" are currently delivered across different countries within Europe. A concerted European approach is urgently required to streamline standards of training and clinical care, to ensure high quality care by using agreed national and European pathways.
Asunto(s)
Servicios de Salud del Adolescente , Medicina del Adolescente/métodos , Servicios de Salud del Niño , Ginecología/métodos , Pediatría/métodos , Adolescente , Niño , Atención a la Salud , Europa (Continente) , Femenino , Ginecología/organización & administración , Humanos , Obstetricia/métodos , Obstetricia/organización & administración , Grupo de Atención al Paciente , Embarazo , Sociedades Médicas , Consejos de EspecialidadesRESUMEN
Disorders/differences of sexual development (DSD) are a group of conditions, some of which can be clinically indistinguishable mainly due to their phenotypic variability. Defining the molecular basis of their wide spectrum is still in progress. The diagnosis of 5-alpha-reductase type 2 (5α-reductase-2) deficiency is difficult especially in newborns and pre-pubertal individuals, and as a result its frequency might be underestimated. In the present study, we describe the clinical characteristics and molecular defects in 3 nonrelated 5α-reductase-2 deficiency patients of Bulgarian descent. Sequencing analysis revealed the mutations p.Y188CfsX9 and p.G196S, and MLPA analysis showed a deletion of exon 1 in the SRD5A2 gene. The observed genetic substitutions were not detected in 76 additionally screened unrelated controls, but a heterozygous healthy carrier of the p.R171S mutation was found. This is the first study on the molecular basis of 5α-reductase-2 deficiency in Bulgaria. It suggests that the carrier frequency of mutations in the SRD5A2 gene might be noteworthy worldwide. There is no correlation between cultural aspects, location, and/or population size and the number of different mutations in SRD5A2 detected, and more efforts should be made to determine the prevalence of this condition in different geographic areas. Our study supports the importance of genetic testing in 46,XY DSD patients, especially in countries or regions where 5α-reductase-2 deficiency has not been reported so far.
Asunto(s)
3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Trastornos del Desarrollo Sexual/metabolismo , Proteínas de la Membrana/deficiencia , Proteínas de la Membrana/genética , Mutación/genética , Bulgaria , Trastorno del Desarrollo Sexual 46,XY/genética , Trastorno del Desarrollo Sexual 46,XY/metabolismo , Trastornos del Desarrollo Sexual/genética , HumanosRESUMEN
46,XY complete gonadal dysgenesis (CGD) is a disorder of sexual development that can result from different mutations in genes associated with sex determination. Patients are phenotypically females, and the disease is often diagnosed in late adolescence because of delayed puberty. Here, we present the clinical and molecular data of a 46,XY female CGD patient with gonadoblastoma with dysgerminoma and incidentally found inherited thrombophilia. The clinical significance of the described de novo SRY gene mutation c.325T>C (p.F109L) is discussed. This case report supports the critical role of the HGM domain in the SRY gene and the need of a multidisciplinary approach for CGD patients.
Asunto(s)
Genes sry , Disgenesia Gonadal 46 XY/genética , Adolescente , Sustitución de Aminoácidos , Secuencia de Bases , Análisis Mutacional de ADN , Disgerminoma/genética , Disgerminoma/patología , Femenino , Disgenesia Gonadal 46 XY/patología , Gonadoblastoma/genética , Gonadoblastoma/patología , Humanos , Mutación Missense , Neoplasias Ováricas/genética , Neoplasias Ováricas/patología , Proteína de la Región Y Determinante del Sexo/genéticaRESUMEN
The main purpose of the research is to compare serum leptin (Lep) levels and adipose tissue percentage in adolescents diagnosed with polycystic ovary syndrome (PCOS) and those in healthy subjects. The results showed a greater percentage of patients with increased adipose tissue and significantly higher serum Lep levels in the PCOS group compared to the healthy controls. It was proved that there is a correlation between Lep and body mass index, body adipose tissue, waist circumference and HOMA index. PCOS in adolescents is a condition related to highly predominant overweight and obesity with exceeding level of body adipose tissue and higher serum Lep levels compared to healthy age-matched controls.
