Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders

Detailed Clinical, Biochemical and Genetic Characterization in GnRH Deficiency Disorders

In this study, we will measure levels of reproductive hormones and metabolic markers in subjects with isolated GnRH deficiency disorders and compare them to healthy control populations. Our goals are (1) to chart the range of hormonal and metabolic biomarkers in healthy subjects and those with reproductive disorders and (2) to correlate reproductive and metabolic phenotypes with genetic changes within patients with reproductive disorders and healthy controls.

Inclusion Criteria:

• Over the age of 18 for men
• Between the ages of 18 and 40 for women
• For reproductive disorder population: Current or previous diagnosis of Idiopathic Hypogonadotropic Hypogonadism or Hypothalamic Amenorrhea

Exclusion Criteria:

• chronic disease (hypertension, high cholesterol, diabetes, asthma, etc)
• polycystic ovarian syndrome for women
• prescription medication use (other than allergy meds) for control populations
• irregular menstrual cycles for healthy female control population (cycle length longer than 35 days or shorter than 25 days. cycle length varies by more than 5 days. less than 9 periods per year)