Journal of Pediatric Endocrinology and Metabolism 2012-01-01

An unusual cause of delayed puberty: Berardinelli- Seip syndrome.

Vimal Upreti, Pawan Dhull, Saroj Kumar Patnaik, K V S Hari Kumar

文献索引：J. Pediatr. Endocrinol. Metab. 25(11-12) , 1157-60, (2012)

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摘要

Berardinelli- Seip syndrome is an autosomal recessive disorder characterized by generalized lipoatrophy, extreme insulin resistance with dyslipidemia in childhood and development of diabetes in adolescence. Menstrual irregularities are commonly seen as a result of secondary polycystic ovarian syndrome. Delayed puberty as a manifestation of these abnormalities in girls has rarely been described earlier. We report one such case patient who had delayed puberty and portal hypertension as unique features amongst the characteristic phenotypes of this syndrome.