RESUMEN
OBJECTIVE: Premature ovarian failure (POF) encompasses a heterogeneous spectrum of conditions, with phenotypic variability among patients. The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis. DESIGN AND METHODS: We performed a mixed retrospective and prospective study of clinical, biological, histological, morphological, and genetic data relating to 357 consecutive POF patients between 1997 and 2008. The study was conducted at a reproductive endocrinology referral center. RESULTS: Seventy-six percent of the patients presented with normal puberty and secondary amenorrhea. Family history was present in 14% of the patients, clinical and/or biological autoimmunity in 14.3%. Fifty-six women had a fluctuating form of POF. The presence of follicles was suggested at ultrasonography in 50% of the patients, and observed in 29% at histology; the negative predictive value of the presence of follicles at ultrasonography was 77%. Bone mineral density alterations were found in 58% of the women. Eight patients had X chromosomal abnormalities other than Turner's syndrome, eight other patients evidenced FMR1 pre-mutation. Two other patients had autoimmune polyendocrine syndrome type 2 and 1. CONCLUSION: A genetic cause of POF was identified in 25 patients, i.e. 7% of the whole cohort. POF etiology remains most often undiscovered. Novel strategies of POF phenotyping are in such content mandatory to improve the rate of POF patients for whom etiology is identified.
Asunto(s)
Aberraciones Cromosómicas , Cromosomas Humanos X , Infertilidad Femenina/genética , Insuficiencia Ovárica Primaria/genética , Adolescente , Adulto , Hormona Antimülleriana/sangre , Densidad Ósea/genética , Niño , Estradiol/sangre , Femenino , Hormona Folículo Estimulante/sangre , Humanos , Infertilidad Femenina/diagnóstico por imagen , Infertilidad Femenina/patología , Subunidades beta de Inhibinas/sangre , Persona de Mediana Edad , Ovario/diagnóstico por imagen , Ovario/patología , Fenotipo , Poliendocrinopatías Autoinmunes/genética , Valor Predictivo de las Pruebas , Insuficiencia Ovárica Primaria/diagnóstico por imagen , Insuficiencia Ovárica Primaria/patología , Pubertad/genética , Pubertad Tardía/genética , Pubertad Tardía/patología , Ultrasonografía , Adulto JovenRESUMEN
It is crucial for all medical institutions to maximize the selection of their actors in strict accordance to equality. As medical administrators, were are questioned on the problems linked with compartmentalization. Our investigation has allowed us to confirm that the ensemble of actors, including the patient, regulates compartmentalization, and that all in all it works rather well. However, this regulation has a price. It has an impact on organization, the energy used, not to mention the cumbersome side-effects that would be felt. We have chosen to focus our research on the patient's role on regulation by using his/her testimony. The patient is never passive. Adaptation requires real efforts on the patient's part in order to adapt to this new environment, while at the same time economizing his/her strength. The regulation carried out is often standardized. The patient conforms, but against his/her will. Does the patient's admittance to the hospital make him/her a second-class citizen? Our results lead us to believe that the prevailing views advocate that the patient be at the heart of the system remain an objective.