Research Priorities


Fertility preservation is a type of procedure used to help keep a person's ability to have children. This procedure is often performed prior to a medical treatment that may cause infertility, such as chemotherapy or radiation therapy. (

Research on fertility preservation can discover multiple methods for saving or protecting eggs or reproductive tissue so that an individual can utilize them in the future. This gives patients with cancer or other rare disorders that affect fertility the opportunity to possibly have biological children in the future, which may also improve their quality of life. At the NICHD-PAG, we have been involved in research through the Oncofertility Consortium and have had an ovarian tissue cryopreservation (OTC) protocol for girls receiving gonadotoxic therapies (chemo and radiation therapy) at Children's National Hospital since 2012. Dr. Gomez-Lobo is the Chair of the Oncofertility Consortium Pediatric Initiative Network ( external link). Our team at NICHD is involved in several projects which will advance the field of Oncofertility and fertility preservation in special populations.

  • NICHD/Oncofertility Ovarian Tissue Slide Image Databank

    In 2007, the Oncofertility Consortium (OC) was established with the support of an NIH grant to address fertility concerns for children and patients of reproductive age diagnosed with cancer. The OC National Physicians Cooperative (NPC) allowed for the collection of a portion of the ovarian tissue to be transferred to Northwestern University for research. NICHD-PAG has partnered with Northwestern University to create a digital ovarian tissue slide image database of H&E stained ovarian tissue slides. The primary objective of this study is to create a digital slide database with the goal of fostering collaborative research by making the slides accessible to scientists intramurally and extramurally both nationally and internationally. This image databank currently houses ~ 2000 slides of ovarian tissue.

    Investigators interested in research need to submit a proposal to the Pediatric Interest Network of the Oncofertility Consortium ( external link) by emailing Dr. Veronica Gomez-Lobo at


Endometriosis is a condition in which tissue similar to the lining of the uterus grows in other places in the body and can cause significant pain. This is one of the most common gynecological diseases. ( Polycystic Ovary Syndrome (PCOS) is a set of symptoms related to a hormonal imbalance resulting in irregular periods, excessive hair growth, severe acne, infertility which can result in long term consequences including diabetes, metabolic syndrome, and uterine cancer. PCOS can affect women and girls of reproductive age. (

  • Data Collection Study of Pediatric and Adolescent Gynecology Conditions

    Both endometriosis and PCOS begin during the childhood or adolescent period and are associated with significant health problems and impact quality of life. However, the study of both of these conditions have predominantly been done in adult populations. Pediatric and adolescent population-based studies to evaluate the beginnings of these conditions may elucidate possible early diagnosis and intervention, treatment, and prevention. Endometriosis, PCOS and other PAG conditions will be evaluated and treated through the Data Collection Study of Pediatric and Adolescent Gynecology Conditions.

    For more details about this study, please email us at


The study of rare conditions often can elucidate unique physiology that affect human health and development. We have developed protocols to study several conditions encountered in PAG which are detailed below. At NICHD-PAG, we are developing a unique data collection system that all patients encountered through the PAG protocols at the Clinical Center can undergo deep historical phenotyping and data migration to a central secure database. Protocols to study several conditions encountered in PAG are detailed below. We are also involved with the Pediatric and Adult Endocrinology and the Reproductive Endocrinology and Infertility program where our areas of research overlap (

This study is expected to last 30 years.

For more details about this study, please email us at

  • Data Collection Study of Pediatric and Adolescent Gynecology Conditions

    Pediatric and Adolescent Gynecology (PAG) conditions are rare disorders in which research is limited. This study is a data collection study of pediatric and adolescent gynecology conditions while we provide state of the art pediatric and adolescent gynecological care. The overall purpose of this study is to provide medical and surgical management of specific PAG conditions and to gather information over time from large groups of patients within each of diagnosis to help improve our understanding of these conditions. The aim of this study is to create a large database of PAG conditions in presentation and variety. The rare conditions include, but are not limited to:

    - Congenital anomalies of the reproductive tract – such as:

    • Mayer-Rokitansky-Küster-Hauser (MRKH)
    • Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA)
    • Obstructed uterine horn
    • Vaginal septum  

    - Reproductive Endocrine Conditions– such as:

    • Premature Ovarian Insufficiency (POI)
    • Polycystic Ovary Syndrome

    - Turner Syndrome

    - Gynecologic tumors

    This study is expected to last 30 years.

    For more details about this study, please email us at

  • Natural History Study of Individuals with Androgen Insensitivity Syndrome (AIS)

    Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen insensitivity syndrome (AIS) is a condition in which the body cannot sense the male hormones in the blood or tissue. Both men and women have male hormones, and the hormones have effects in all parts of the body. The aim of this natural history study is to define and describe a comprehensive phenotype of patients with androgen insensitivity (based on confirmed androgen receptor (AR) gene difference), including hormonal, metabolic, immunologic, and cardiovascular aspects of this condition, as well as effects on quality of life and tumor formation risk and evaluation. The purpose is to obtain a better understanding of the overall health issues that people with AIS may have. With a natural history study in individuals with AIS, data and tests may provide information regarding health risks and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health.

For more details about this study, please email us at

4. Rare Diseases with Associated Gynecologic Conditions

Girls and women with rare diseases often have significant gynecologic impact from their underlying conditions. Gynecologic conditions throughout the reproductive span in individuals with rare conditions will be evaluated in Data Collection Study of Pediatric and Adolescent Gynecology Conditions listed above.

Examples of collaboration with other NIH teams in research on gynecologic conditions in individuals with rare conditions:

  • Fibrous dysplasia/McCune Albright Syndrome (FD/MAS)- Michael Collins, MD, NIDCR- MAS is caused by a somatic mutation that can be present in the ovary and cause spontaneous activation of ovarian function and precocious puberty. We conducted a phone interview of all women in the FD/MAS study and asked about OB/GYN history (Orphanet J Rare Dis. 2019 Apr 29;14(1):90); Currently we are working with the FD/MAS investigators to modify the existing protocol to evaluate bleeding and pain symptoms after menarche, obstetrical outcomes, fertility, and age of menopause.
  • Congenital Adrenal Hyperplasia (CAH)- Deborah Merke, MD, MS- Women with excess androgen conditions have significant gynecologic impact from their underlying endocrine disorder. We have conducted a case control study of sexual function and quality of life in women with CAH compared to age, race, and marital status matched controls (Journal of the Endocrine Society, Sept 2020); Based on these results we are evaluating an interventional study of vaginal estrogen administration to improve sexual function.
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