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

Massachusetts General Hospital50 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Idiopathic Hypogonadotropic Hypogonadism Hypothalamic Amenorrhea

Eligibility

Sex: ALLMin age: 18 YearsMax age: 40 YearsHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (1)

Outcomes

Primary Outcomes

Serum/plasma markers

At the study visit, serum and plasma samples will be taken to measure levels of reproductive hormones and metabolic markers in the subjects' blood.

Time frame: baseline

Secondary Outcomes

Genetics

At the study visit, blood will be taken and DNA cell lines will be made to screen for genes that potentially contribute to the development of reproductive disorders

Time frame: baseline