- a global digital women's health initiative for evaluation and management of secondary amenorrhea: case report and literature review.

There is a need to close the gap between knowledge and action in health care. Effective care requires a convenient and reliable distribution process. As global internet and mobile communication increase capacity, innovative approaches to digital health education platforms and care delivery are feasible.

Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.

Context: A genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI).

Objective: We hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI.

Design: The study was an observational study.

Optimizing Fertility in Primary Ovarian Insufficiency: Case Report and Literature Review.

Primary ovarian insufficiency (POI) is a clinical spectrum of ovarian dysfunction. Overt POI presents with oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. Overt POI involves chronic health problems to include increased morbidity and mortality related to estradiol deficiency and the associated osteoporosis and cardiovascular disease as well as psychological and psychiatric disorders related to the loss of reproductive hormones and infertility.

Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.

Abnormalities in the X-linked gene are associated with a constellation of disorders, which have broad and profound implications for the person first diagnosed, and extended family members of all ages. The rare and pleiotropic nature of the associated disorders, both common and not, place great burdens on (1) the affected families, (2) their care providers and clinicians, and (3) investigators striving to conduct research on the conditions. Fragile X syndrome, occurring more severely in males, is the leading genetic cause of intellectual disability.

Provider Conscientious Refusal of Abortion, Obstetrical Emergencies, and Criminal Homicide Law.

Catholic doctrine's strict prohibition on abortion can lead clinicians or institutions to conscientiously refuse to provide abortion, although a legal duty to provide abortion would apply to anyone who refused. Conscientious refusals by clinicians to end a pregnancy can constitute murder or reckless homicide under American law if a woman dies as a result of such a refusal. Such refusals are not immunized from criminal liability by the constitutional right to the free exercise of religion or by statutes that confer immunity from criminal homicide prosecution.

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.

To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown.

Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.

Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks.

A design thinking approach to primary ovarian insufficiency.

Most clinicians are not prepared to provide integrated personal care to address all the clinical needs of women with primary ovarian insufficiency. Design thinking is an engineering methodology used to develop and evaluate novel concepts for systems operation. Here we articulate the need for a seamlessly integrated mobile health system to support genomic research as well as patient care.

Hormone replacement therapy in young women with surgical primary ovarian insufficiency.

Bilateral oophorectomy performed in women before they are menopausal induces surgical primary ovarian insufficiency, an acute and chronic deficiency of the hormones normally produced by the ovaries. Without hormone replacement therapy (HRT) most of these women develop severe symptoms of estrogen (E) deficiency and are at increased risk for osteoporosis, cardiovascular disease, cognitive decline, dementia, and the associated increases in morbidity and mortality. In cases in which a hysterectomy has been performed at the time of bilateral oophorectomy transdermal or transvaginal E replacement therapy without cyclic progestin replacement is the optimum hormonal management for these women.

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1.

Autoimmune polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features multiple autoimmune disease manifestations. It is caused by mutations in the Autoimmune regulator (AIRE) gene, which promote thymic display of thousands of peripheral tissue antigens in a process critical for establishing central immune tolerance. We here used proteome arrays to perform a comprehensive study of autoimmune targets in APS1.

Psychosocial Vulnerability, Resilience Resources, and Coping with Infertility: A Longitudinal Model of Adjustment to Primary Ovarian Insufficiency.

Background: The infertility associated with primary ovarian insufficiency (POI) presents significant emotional challenges requiring psychosocial adjustment. Few investigations have explored the longitudinal process of adaptation to POI.

Purpose: This longitudinal investigation tests a model of adjustment to POI that includes separate psychosocial vulnerability and resilience resource factors.

Update on primary ovarian insufficiency in adolescents.

Purpose Of Review: We provide an overview of new insights into the genetic causes of primary ovarian insufficiency (POI) and address the challenges faced by clinicians who care for adolescents with this condition.

Recent Findings: In most cases, the cause of POI remains a mystery after appropriate clinical testing has been completed. Large-scale genomic sequencing approaches are uncovering new mechanisms underlying the disorder.

Bone mineral density in young women with primary ovarian insufficiency: results of a three-year randomized controlled trial of physiological transdermal estradiol and testosterone replacement.

Context: Women with primary ovarian insufficiency have significantly lower serum estradiol and T levels compared with regularly menstruating women. They also have significantly reduced bone mineral density (BMD).

Objective: The objective of the study was to evaluate the efficacy of hormone replacement in maintaining BMD in these young women.

Effects of physiologic testosterone therapy on quality of life, self-esteem, and mood in women with primary ovarian insufficiency.

Objective: Women with primary ovarian insufficiency (POI) display low androgen levels, which could contribute to mood and behavioral symptoms observed in this condition. We examined the effects of physiologic testosterone therapy added to standard estrogen/progestin therapy on quality of life, self-esteem, and mood in women with POI.

Methods: One hundred twenty-eight women with 46,XX spontaneous POI participated in a 12-month randomized, placebo-controlled, parallel-design investigation of the efficacy of testosterone augmentation of estrogen/progestin therapy.