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Panminerva Medica 2017 March;59(1):15-32

DOI: 10.23736/S0031-0808.16.03259-6


lingua: Inglese

A design thinking approach to primary ovarian insufficiency

Lisa A. MARTIN 1, Alison G. PORTER 1, Vincent A. PELLIGRINI 2, Peter F. SCHNATZ 2, Xuezhi JIANG 2, Nicole KLEINSTREUER 3, Janet E. HALL 3, Sarah VERBIEST 4, Jill OLMSTEAD 5, Ryan FAIR 6, Alberto FALORNI 7, Luca PERSANI 8, Aleksandar RAJKOVIC 9, Khanjan MEHTA 10, Lawrence M. NELSON 11

1 ConoverSystems, Ashburn, VA, USA; 2 Reading Health System, Reading, PA, USA; 3 National Institute of Environmental Health Sciences, National Institutes of Health, Durham, NC, USA; 4 University of North Carolina School of Social Work, Chapel Hill, NC, USA; 5 PricewaterhouseCoopers Public Services, McLean, VA, USA; 6 Oracle, Redwood City, CA, USA; 7 University of Perugia, Perugia, Italy; 8 University of Milan and IRCCS Istituto Auxologico Italiano, Milan, Italy; 9 University of Pittsburgh, Pittsburgh, PA, USA; 10 Pennsylvania State University, University Park, PA, USA; 11 Division of Intramural Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA


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. We also review the pathophysiology and management of primary ovarian insufficiency. Molecular understanding regarding the pathogenesis is essential to developing strategies for prevention, earlier diagnosis, and appropriate management of the disorder. The syndrome is a chronic disorder characterized by oligo/amenorrhea and hypergonadotropic hypogonadism before age 40 years. There may be significant morbidity due to: 1) depression and anxiety related to the loss of reproductive hormones and infertility; 2) associated autoimmune adrenal insufficiency or hypothyroidism; and 3) reduced bone mineral density and increased risk of cardiovascular disease related to estrogen deficiency. Approximately 5% to 10% of women with primary ovarian insufficiency conceive and have a child. Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. In most cases of spontaneous primary ovarian insufficiency no environmental exposure or genetic mechanism can be identified. As a rare disease, the diagnosis of primary ovarian insufficiency presents special challenges. Connecting patients and community health providers in real time with investigators who have the requisite knowledge and expertise would help solve this dilemma.

KEY WORDS: Primary ovarian insufficiency - Menopause, premature - Primary ovarian insufficiency

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