Association of the Pro12Ala polymorphism in peroxisome proliferator-activated receptor gamma2 with decreased basic metabolic rate in women with polycystic ovary syndrome.

Objective: The peroxisome proliferator-activated receptor (PPAR)gamma is a transcription factor involved in glucose homeostasis and energy metabolism. A missense mutation at codon 12 in the PPARgamma2 has been associated with increased body mass index (BMI) and attenuated insulin resistance (IR) in polycystic ovary syndrome (PCOS). We have recently shown a decreased basic metabolic rate (BMR) in PCOS.

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.

Objective: To correlate the presence of renal agenesis/dysgenesis to the prevalence of KAL1 gene defects in patients with sporadic Kallmann syndrome (KS).

Design: Prospective assessment of renal structure and DNA sequence analysis of the KAL1 gene.

Setting: Outpatient clinics of the divisions of endocrinology of university hospitals.

alpha 2 beta adrenoreceptor 301-303 deletion polymorphism in polycystic ovary syndrome.

alpha(2beta) adrenoreceptor 301-303 deletion polymorphism does not influence basal metabolic rate, insulin resistance or weight gain in Greek women with polycystic ovary syndrome.