Rare conditions in PAG-which will involve 4 other protocols

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications & trials

Abstract

Database of Pediatric and Adolescent Gynecology Conditions: PAG conditions are rare disorders and research related to PAG conditions is limited. Some patients with unusual or challenging pediatric and adolescent gynecologic conditions are referred to NIH investigators but are not eligible for any, disease-specific active research protocol. Such patients may provide exceptional gain of knowledge that will potentially advance research in pediatric and adolescent gynecology disorders, and their evaluation may catalyze the recognition of new disease processes and new research initiatives. This protocol will give an opportunity to NICHD to collect data and specimen of PAG patient, create large database of PAG conditions to better understand PAG conditions and provide stimuli for new clinical research initiatives. In this database we are planning to enroll Family members of PAG patients. This cross-sectional data collection protocol is designed to allow data and specimen collection of individuals with pediatric and adolescent gynecology (PAG) conditions such as: reproductive, endocrine, gynecologic tumors and skin conditions, menstrual abnormalities and congenital anomalies of the reproductive tract. Clinical data of family members would provide clinical information related to the diagnosis of a proband in future research. The evaluation of such challenging patients is necessary to sustain the analytical and innovative faculties of clinical research staff at all levels, from student to clinical fellow to senior staff member. 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. Individuals with abnormalities of this receptor gene can present with androgen insensitivity syndrome (AIS). There are a variety of phenotypes including complete female phenotype (complete androgen insensitivity or CAIS), ambiguous genitalia in cases of partial androgen insensitivity (PAIS) and male phenotype associated with infertility of hypospadias in mild cases of AIS. Complete androgen insensitivity is a rare condition with an estimated incidence of 1:20,000-64,000, while PAIS is rarer still and mild AIS has likely not been studied enough to ascertain its prevalence. Individuals with complete and partial AIS present some management conundrums as traditionally they have undergone gonadectomy in order to avoid gonadal tumors as well as pubertal virilization in girls with PAIS. Because this is a rare condition, little is known regarding the risks and benefits of gonadectomy, optimal hormone replacement after gonadectomy as well as general health in individuals with these conditions. Furthermore, the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. Finally, some testosterone effects may be through mechanisms other than AR receptor and these are not well understood. A natural history study in individuals with AIS 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