Despite the availability of multiple highly effective pharmacologic therapies for osteoporosis, fracture rates in the United States have plateaued or increased in recent years. At the same time, individuals with osteoporosis are exposed to …
CONTEXT: Pregnant women are ubiquitously exposed to endocrine disrupting chemicals (EDCs). Anogenital distance (AGD) is a hormone-dependent marker of reproductive system development. OBJECTIVE: We evaluated associations of maternal EDCs wi…
CONTEXT: Gonadotropin treatment to induce spermatogenesis for gonadotropin-deficient men is the only medically treatable cause of male infertility. However, time-dependent analyses of fertility outcomes in large cohorts are lacking. We eval…
OBJECTIVE: In osteogenesis imperfecta (OI), phenotypic variability and the limited predictive value of genotype-phenotype correlations underscore the need for reliable predictive marker of disease severity. Periostin is a matricellular prot…
CONTEXT: Low vitamin D levels have been associated with female infertility, but the underlying mechanisms are not understood. OBJECTIVES: To examine vitamin D treatment, in vitro and in vivo, on human endometrial stromal cell (eSC) decidua…
CONTEXT: The concentration of circulating anti-Müllerian hormone (AMH) predicts short-term (3-5 years) bone loss around menopause. Whether AMH during midreproductive years predicts bone health over a decade later is unknown. OBJECTIVE: To …
CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI i…
CONTEXT: Autoimmune disease is common in women with primary ovarian insufficiency (POI), and the genetic etiology of autoimmune disease suggests that it could be hereditary in families of women with POI. OBJECTIVE: We hypothesized that a s…
CONTEXT: DNA damage/repair gene variants are associated with both primary ovarian insufficiency (POI) and cancer risk. OBJECTIVE: We hypothesized that a subset of women with POI and family members would have increased risk for cancer. DES…
INTRODUCTION: Short-term caloric restriction is a common practice even in lean and underweight women. We studied the impact of dietary restriction on sleep and its interplay with reproductive hormones across the menstrual cycle in women wit…
OBJECTIVE: To assess associations between clomiphene citrate (CC) use and perinatal death. DESIGN: Whole of population data linkage cohort. SETTING: South Australia. PARTICIPANTS: All women giving birth between July 2003 and December 201…
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about dise…
CONTEXT: FK506-binding-protein-51 (FKBP51) is a glucocorticoid-induced co-chaperone protein previously shown to bind glucocorticoid receptor (GR), inhibiting its transcriptional activity. We previously found increased FKBP51 levels in uteri…
CONTEXT: Use of a levonorgestrel-releasing intrauterine device (LNG-IUD) has become common irrespective of age and parity. To date, only a few studies have examined its possible metabolic changes and large-scale biomarker profiles in detail…
CONTEXT: Metabolic dysfunction-associated steatotic liver disease (MASLD) affects one third of the world's population, but its associations with extrahepatic multimorbidity and mortality remain unclear. OBJECTIVE: This study aimed to estim…
OBJECTIVE: Fibroids are hormonally dependent uterine tumors. The literature on adiposity and fibroid prevalence is inconsistent. Previous work usually combined all those with a body mass index (BMI) ≥30 kg/m2 into a single category and reli…
Large-scale studies show endometriosis linked to earlier menopause onset. Recent research targeting women with laparoscopically diagnosed endometriosis found an increase in cases of early natural menopause. Furthermore, recent large-scale c…
CONTEXT: Heavy menstrual bleeding (HMB) is common and debilitating, but the precise endometrial mechanisms causing increased menstrual blood loss (MBL) remain undefined. We have previously identified a role for hypoxia in endometrial repair…
CONTEXT: Abnormal endometrial extracellular matrix (ECM) remodeling compromises endometrial receptivity and diminishes the probability of a successful live birth. Serum amyloid A1 (SAA1), a modulator of inflammation, is elevated in the circ…
Postmenopausal hyperandrogenism is a condition caused by relative or absolute androgen excess originating from the ovaries and/or the adrenal glands. Hirsutism, in other words, increased terminal hair growth in androgen-dependent areas of t…
CONTEXT: Extensive studies have provided considerable evidence suggesting the role of inflammation in the development of female reproductive diseases. However, causality has not been established. OBJECTIVE: To explore whether genetically d…
CONTEXT: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a heritable form of primary hyperparathyroidism caused by germline inactivating mutations in CDC73 encoding parafibromin and is associated with an increased risk of parathyroid can…
BACKGROUND: The risk of developing gestational diabetes mellitus (GDM) is higher in women undergoing assisted reproductive treatment than in women conceiving spontaneously. OBJECTIVES: To determine whether the GDM risk after day-3 embryo t…