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

Study Overview
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Brief Summary
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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.

Official Title
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Detailed Clinical, Biochemical and Genetic Characterization in GnRH Deficiency Disorders

Conditions
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Idiopathic Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea

Participation Criteria
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Eligibility Criteria
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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)

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 40 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Hypothalamic Amenorrhea<br>This group is for pre-menopausal women between the aged 18-40 who have been previously diagnosed with Hypothalamic Amenorrhea. They can be currently diagnosed or may have recovered. | |
| Healthy Adult Men<br>This group is men over the age of 18 who do not have any history of reproductive disorders or chronic disease. | |
| Healthy Adult Women<br>This group is pre-menopausal, regularly menstruating women ages 18-40 who do not have a history of reproductive disorders or chronic disease. | |
| Idiopathic Hypogonadotropic Hypogonadism<br>This group is for adult men and women over the age of 18 who have been diagnosed with Idiopathic Hypogonadotropic Hypogonadism with or without anosmia. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | baseline | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | baseline |