Upreti Vimal, Dhull Pawan, Patnaik Saroj Kumar, Kumar K V S Hari
Endocrinology, Command Hospital, Bangalore 560007, India.
J Pediatr Endocrinol Metab. 2012;25(11-12):1157-60. doi: 10.1515/jpem-2012-0240.
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.
贝拉尔迪内利-塞普综合征是一种常染色体隐性疾病，其特征为全身性脂肪萎缩、儿童期伴有血脂异常的极端胰岛素抵抗以及青春期糖尿病的发展。继发性多囊卵巢综合征常导致月经不规律。此前很少有关于女孩青春期发育延迟作为这些异常表现的描述。我们报告了这样一例病例，该患者在该综合征的典型表型中具有青春期发育延迟和门静脉高压这一独特特征。
