title: An unusual cause of delayed puberty: Berardinelli- Seip syndrome.
abstract: 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.
authors: Endocrinology, Command Hospital, Bangalore 560007, India. v_upreti123@rediffmail.com
authors: Vimal
authors: V
authors: Upreti
authors: Pawan
authors: P
authors: Dhull
authors: Saroj Kumar
authors: SK
authors: Patnaik
authors: K V S Hari
authors: KV
authors: Kumar
mesh_terms: D000279:Administration, Cutaneous; D000293:Adolescent; D000069059:Atorvastatin; D003131:Combined Modality Therapy; D018752:Diet, Fat-Restricted; D004359:Drug Therapy, Combination; D004967:Estrogens / Q000008:administration & dosage / Q000627:therapeutic use; D005081:Exercise Therapy; D005260:Female; D011345:Fenofibrate / Q000627:therapeutic use; D005395:Fish Oils / Q000008:administration & dosage; D006538:Heptanoic Acids / Q000627:therapeutic use; D006801:Humans; D006975:Hypertension, Portal / Q000097:blood / Q000175:diagnosis / Q000188:drug therapy; D015228:Hypertriglyceridemia / Q000097:blood / Q000175:diagnosis*; D007328:Insulin / Q000627:therapeutic use; D007333:Insulin Resistance / Q000502:physiology; D052497:Lipodystrophy, Congenital Generalized / Q000097:blood / Q000175:diagnosis* / Q000628:therapy; D000077205:Pioglitazone; D011433:Propranolol / Q000627:therapeutic use; D011628:Puberty, Delayed / Q000097:blood / Q000175:diagnosis*; D011758:Pyrroles / Q000627:therapeutic use; D045162:Thiazolidinediones / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D004967:Estrogens; D005395:Fish Oils; D006538:Heptanoic Acids; D007328:Insulin; D011758:Pyrroles; D045162:Thiazolidinediones; D011433:Propranolol; D000069059:Atorvastatin; D011345:Fenofibrate; D000077205:Pioglitazone