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

Mass General Brigham

Status: Terminated

Conditions: Hypothalamic Amenorrhea; Idiopathic Hypogonadotropic Hypogonadism

Study type: Observational

Funder types: Other

Identifiers

NCT01165619

1200204347-BL

Details and patient eligibility

About

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.

Enrollment: 50 patients

Sex: All

Ages: 18 to 40 years old

Volunteers: Accepts Healthy Volunteers

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)

Trial design

50 participants in 4 patient groups

Hypothalamic Amenorrhea

Description:

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

Description:

This group is men over the age of 18 who do not have any history of reproductive disorders or chronic disease.

Healthy Adult Women

Description:

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

Description:

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.