The present invention relates to the discovery that mutant KCNJ5 is associated with adrenal diseases and disorders. The invention includes compositions and methods for the diagnosis and treatment of adrenal diseases and disorders, based upon the presence or absence of a KCNJ5 mutation that is associated with an adrenal disease or disorder.

The present invention relates to a system and methods for evaluating and tracking the operation of the menstrual cycle and treating undesirable trends associated with the menstrual cycle. Various aspects of the system and methods described herein rely upon the operation of diagnostic tests specially configured to evaluate a bodily fluid for the presence or absence of hormones or analytes, and more specifically configured to evaluate a bodily fluid for at least the presence or absence of pregnanediol glucuronide at a threshold selected from the range inclusive of 1 μg/mL-10 μg/mL. The results from one or more diagnostic tests are interpreted in accordance with the teachings of the system. The interpretations are useful in accordance with facilitating treatments associated with medical conditions correlated to the generated interpretations, optionally delivered during a consultation with a medical provider during a telemedicine consultation, the treatments optionally comprising dietary changes incorporating the consumption of certain seeds to mitigate hormonal imbalances.

A method of diagnosing non-alcoholic fatty liver disease (NAFLD) in a subject, and/or determining the stage of NAFLD in a subject diagnosed with NAFLD; or a method of identifying a subject having an increased risk of developing liver cancer; or a method of treating a subject with NAFLD having advanced fibrosis or cirrhosis; wherein the method comprises determining the level of at least one steroid hormone or metabolite thereof in a urine sample provided by the subject.

Screening methods as well as kits for identifying modulators of hydroxysteroid (17-beta) dehydrogenase (HSD17B) family member proteins, such as HSD17B13, are provided. The methods comprise screening molecules for their capacity to modulate the HSD17B family member protein, including inhibiting the HSD17B family member protein, as measured by substrate depletion, product concentration from the HSD17B family member protein substrate conversion or NADH concentration, levels of labeled substrate, luciferin light emission, or combinations thereof. Inhibitors of HSD17B family member proteins identified through the screening methods may be used to treat liver diseases, disorders, or conditions in which the HSD17B family member protein plays a role.

In a method for immunologically quantifying a steroid, it is possible to exclude a steroid from cyclodextrin when a standard solution containing the steroid included in cyclodextrin is treated with a surfactant, which thereby suppresses the deviation in behavior of the antigen-antibody reaction between the specimen (test sample) and the standard solution, and then significantly improves the accuracy of steroid quantification.

A composition and method of detecting an analyte in a sample using the composition, the composition including: a liquid that includes water; a plurality of first hollow glass bubbles in the liquid; a plurality of covalently attached first affinity groups that are covalently attached to at least some of the plurality of first hollow glass bubbles; and a plurality of first detector compound molecules not covalently bonded to the plurality of first hollow glass bubbles; wherein the first detector compound molecules include a first detectable group that is detected at a first wavelength; and wherein the first hollow glass bubbles have: a density of less than 0.60 gram/mole; a span of less than 1.0; and a plurality of covalently attached first affinity groups.

Disclosed are methods and systems using liquid chromatography-tandem mass spectrometry (LC-MS/MS) for the detection and/or analysis of progesterone metabolites, such as progesterone sulfates, in biological samples. In some cases, the amount of progesterone sulfate may be used to distinguish whether gestational pruritus of the skin is an early symptom of (ICP) or due to benign pruritus gravidarum.

Provided are methods for determining the amount of estradiol in a sample using mass spectrometry. The methods generally involve ionizing estradiol in a sample and detecting and quantifying the amount of the ion to determine the amount of estradiol in the sample.

The disclosure features non-invasive methods for diagnosing non-alcoholic fatty liver (NAFL), non-alcoholic steatohepatitis (NASH), and liver fibrosis in a subject by, e.g., determining the level of one or more lipids, glycans, hormones, and/or fatty acids in a biological sample (e.g., a blood, serum, or plasma sample) obtained from the subject. Also described are methods of treating, monitoring, or evaluating the efficacy of a treatment for NAFL, NASH, or liver fibrosis in a subject based on the level of one or more lipids, glycans, hormones, and/or fatty acids in a biological sample (e.g., a blood, serum, or plasma sample) obtained from the subject.

The present invention relates to a method for quantitative measurement of catechol estrogen bound protein in blood sample. By detecting adduction levels of binding sites of the catechol estrogen on the protein in blood sample, the catechol estrogen bound protein in the blood sample can be detected quantitatively and a limit of quantitation can be decreased.