Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 43(1): 46-48, ene.-mar. 2016.
Article in Spanish | IBECS | ID: ibc-148456

ABSTRACT

Introducción: El síndrome de Rothmund-Thomson (SRT) es un trastorno de herencia autosómica recesiva, con alteraciones endocrino-dermatológicas principalmente. Existen 300 casos a nivel mundial. Solo descrita una gestación. Descripción del caso: Paciente con SRT que consigue 2 gestaciones espontáneas, de curso normal, finalizadas mediante parto vaginal a término, naciendo 2 mujeres sanas. Discusión: La fertilidad esta disminuida debido a un hipogonadismo hipogonadotropo, sin embargo, describimos 2 gestaciones exitosas y de curso normal. El diagnóstico se realiza por hallazgos clínicos y es posible realizar estudio molecular tras técnicas de diagnóstico prenatal invasivas. Es importante un diagnóstico diferencial correcto


Introduction: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disease with endocrine and dermatological alterations. There are 300 cases worldwide, but there is only one documented case of RTS during pregnancy. Case description: A patient had two spontaneous and uneventful pregnancies, giving birth to two healthy girls through vaginal delivery at term. Discussion: Decreased fertility is due to hypogonadotropic hypogonadism. However, we describe two successful and uneventful pregnancies. Diagnosis is based on clinical findings. Molecular study is possible with invasive prenatal diagnostic techniques. The differential diagnosis is very important


Subject(s)
Humans , Female , Pregnancy , Adult , Rothmund-Thomson Syndrome/complications , Hypogonadism/complications , Pregnancy Complications , Pregnancy Outcome , Infertility, Female , Diagnosis, Differential
SELECTION OF CITATIONS
SEARCH DETAIL
...