Observation of Environment and Reproductive-Endocrine Effects

Background:

Endocrine disorders occur when the glands that make hormones do not work properly. Hormones levels that are too high or too low can cause problems such as late or early puberty, irregular periods, and infertility. Environmental factors - including pollution; chemical exposure at home and work; foods; medicines; and sleep habits - may cause problems with the endocrine and reproductive systems.

Objective:

To learn how environmental factors may affect the endocrine and reproductive systems.

Eligibility:

Males or females, referring to sex assigned at birth, aged 8 years and older; they must have hypogonadism, infertility, or other reproductive disorders.

Design:

Adult participants will have 4 to 5 visits in 5 years. Children may have up to 12 visits; they may remain in the study up to the age of 23. Most visits will be less than 3 hours.

Participants will be screened. They will have a physical exam. They will have blood and urine tests. They will complete questionnaires; they will answer questions about their diet, health, and other topics. Some may be referred for additional tests, such as imaging scans and semen analysis.

Specific tests conducted during study visits will vary, depending on the participant s diagnosis. In addition to repeated blood and urine tests, these may include:

Body composition measure: Participants will sit in a pod-shaped machine for about 6 minutes. The machines measures the air inside the capsule to record body fat and breathing volume.

Resting energy expenditure test: Participants will lie down with a clear dome placed over their head. They will breathe quietly for 30 minutes. This test measures the number of calories their body burns at rest.

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Study Description:

This study will investigate the relationship between environment, lifestyle, and reproductive function. This will include the study of these factors at enrollment and in response to clinical care for the underlying condition. This study will prospectively follow participants with endocrine reproductive disorders and collect data secondary to clinical care and data regarding internal and external environmental exposures. We hypothesize that dysregulated environment is associated with reproductive and endocrine dysfunction and the clinical phenotype may evolve in response to treatment of the dysfunction. To study the hypothesis that external and internal environmental factors are associated with reproductive and endocrine dysfunction.

Objectives:

* To study the hypothesis that external and internal environmental factors are associated with reproductive and endocrine dysfunction
* To generate hypothesis for future studies investigating the impact of environment on human health

Endpoints:

Since this is an exploratory and hypothesis generating study there are no pre-defined endpoints of this study.

Eligibility Criteria:
* INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. Male or female, referring to sex assigned at birth (cis gender)
2. Age \> 8 years and weight \>= 12 kg
3. A diagnosis of hypogonadism, infertility or other reproductive dysfunction

   Some specific diagnoses (as defined in standard guidelines) will include:
   * Male or female hypogonadism

     * Obesity/metabolic syndrome related to hypogonadism.
     * Other reproductive dysfunction (e.g., secondary to endocrine dysfunction, thyroid disorders, Cushing syndrome, pharmacotherapy, etc.)
     * Premature Ovarian Insufficiency
     * Isolated hypogonadotropic hypogonadism
   * Polycystic Ovarian Syndrome
   * Delayed Puberty
   * Precocious puberty
   * Perimenopause and post-menopausal states
   * Androgen Excess States (Nonclassic Congenital Adrenal Hyperplasia, Extreme hyperinsulism, Idiopathic etc.)

   or

   -Exhibiting signs of a diagnosis of hypogonadism, e.g., Bosma arrhinia microphthalmia syndrome (BAMS)
4. Ability of participant, legal guardian, or Legally Authorized Representative (LAR) to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. A diagnosis of a serious medical disorder such as malignancy or heart disease will be grounds for exclusion at the discretion of the PI or AI.
2. Inability to follow up with the research study and/or perform study procedures, at the discretion of the PI or AI.
3. Pregnant participants, less than 18 years of age, for their safety, since there is not a trained doctor on the study to give proper medical care to pregnant individuals less than 18 years of age.

Individuals who do not meet the criteria for participation in this study (screen failure) because of an acute, reversible or transient medical reason may be rescreened upon reversal, improvement or stabilization of their clinical status. Participants who develop an acute, reversible or transient medical condition during the study may return upon reversal, improvement or stabilization of their clinical status.