male-osteoporosis
Peris P, Martínez-Ferrer A, Monegal A, Martínez de Osaba MJ, Alvarez L, Ros I et al. — Clinical and Experimental Rheumatology
Applicability / notes. Filed in v0.4.0 as a second named counter for H2. A consecutive series describing what actually underlies male osteoporosis in practice, where identifiable secondary causes account for a large share and more than one cause is often present in the same person. Cited against the expectation of a single explanation. No DOI exists on the PubMed record for this article, which is why the field is empty rather than filled with a guess. Abstract-level only - the full text was not obtained, so no proportion or subgroup figure is carried across.
Record overlap notes (research). male with markedly low BMD for age; several candidate contributing causes documented at once
External record (DOI/PubMed/publisher) · Local PDF: never published
bartonella-henselae
Maman E, Bickels J, Ephros M, Paran D, Comaneshter D, Metzkor-Cotter E et al. — Clinical Infectious Diseases
Applicability / notes. 11-year surveillance study (n=913 CSD) with within-study comparison of MSK vs non-MSK cases; serology/PCR-confirmed case definition. Strong descriptive epidemiology of MSK CSD; limited treatment outcome detail. Design is surveillance/case-control within a case registry, not a prospective inception cohort of unselected exposure.
Record overlap notes (research). polyarthralgia; joint symptoms without classic inflammatory serology; adult age risk for MSK CSD; osteomyelitis rare among MSK presentations
External record (DOI/PubMed/publisher) · Local PDF: never published
Bergmans AM, Peeters MF, Schellekens JF, Vos MC, Sabbe LJ, Ossewaarde JM et al. — Journal of Clinical Microbiology
Applicability / notes. Classic methods paper comparing IFA/ELISA IgM/IgG performance against well-characterized CSD cases and controls. Foundational for skepticism toward isolated serology.
Record overlap notes (research). IGeneX Bartonella IgM+ then indeterminate; PCR/FISH negative; serology interpretation uncertainty
External record (DOI/PubMed/publisher) · Local PDF: never published
Koutantou M, Kambas K, Makka S, Fournier PE, Raoult D, Angelakis E — Canadian Journal of Infectious Diseases and Medical Microbiology
Applicability / notes. Narrative review of 63 papers after screening 437; quantifies poor and heterogeneous serology performance and argues molecular testing of nodes as gold standard for typical CSD.
Record overlap notes (research). serology-only positive specialty results; PCR negative blood tests; tissue-based diagnosis research framing when feasible
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McGill SL, Regnery RL, Karem KL — Infection and Immunity
Applicability / notes. Western blot characterization of isotype/subclass responses in serologically confirmed CSD sera. Directly addresses IgG subclass—critical for patient’s IgG4↑/IgG1↓ hypothesis. Shows dominant IgG1 antigen recognition in CSD, not IgG4-driven pattern.
Record overlap notes (research). IgG4 high / IgG1 low laboratory pattern; question of infection-driven Ig subclass skew
External record (DOI/PubMed/publisher) · Local PDF: never published
Woestyn S, Moreau M, Munting E, Bigaignon G, Delmée M — Journal of Clinical Microbiology
Applicability / notes. Early well-documented adult immunocompetent osteomyelitis case with serology, histopathology, and PCR of bone and node tissue. Genotype I. Supports that bone Bartonella occurs outside pediatrics/HIV.
Record overlap notes (research). immunocompetent host; bone/periosteal disease spectrum; multi-modal diagnosis needed (serology+tissue PCR)
External record (DOI/PubMed/publisher) · Local PDF: never published
early-onset-osteoporosis
Collet C, Ostertag A, Ricquebourg M, Delecourt M, Tueur G, Isidor B et al. — JBMR Plus
Applicability / notes. Cohort of 123 young/middle-aged adults with idiopathic OP (Z-score < −2.0, diagnosis before age 55, fracture optional). Secondary causes including hypogonadism were EXCLUSIONS. Yield figures must state numerator/denominator/variant class. Identifiers verified Crossref+NCBI 2026-08.
Record overlap notes (research). age-under-55 markedly low BMD (directional only); NOT a match on idiopathic-after-excluding-hypogonadism cohort definition; candidate genes LRP5 WNT1 PLS3 COL1 remain research-relevant, not yield-transferable
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hypercalciuria
Ryan LE, Ing SW — Cleveland Clinic Journal of Medicine
Applicability / notes. Practical CCJM review; notes idiopathic hypercalciuria in 10–19% of men with low bone mass and direct trabecular bone loss especially in men.
Record overlap notes (research). elevated 24h urine calcium values; markedly low BMD for age (~38); normal serum Ca/PTH/VitD on record
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Adams JS, Song CF, Kantorovich V — Annals of Internal Medicine
Applicability / notes. Uncontrolled case series, n=5, ages 42–66; no control group; no fracture outcomes; the patient is younger than every enrolled subject. Source conclusion is associational ("was associated with" BMD increase), not causal proof. Not a treatment recommendation.
Record overlap notes (research). elevated 24h urine calcium values; markedly low BMD for age (~38); male low-BMD research phenotype
External record (DOI/PubMed/publisher) · Local PDF: never published
Sakhaee K, Maalouf NM, Poindexter J, Adams-Huet B, Moe OW — Journal of Urology
Applicability / notes. Filed in v0.4.0 to give H3 a named counter rather than an empty list. Examines how far urinary calcium alone tracks bone density in calcium stone formers. Cited for the magnitude question - whether urinary calcium excretion can carry the weight of explaining a bone density this low on its own - and not for any statement about this case. Used at abstract level only; no figure or table value is carried across. That is a limit on how this card is used, not on what is available - the full text is open in PMC.
Record overlap notes (research). 24-hour urine calcium measured across three collections; markedly low BMD for age
External record (DOI/PubMed/publisher) · Local PDF: never published
serology
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secondary-osteoporosis
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diagnostics
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PCR
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idiopathic-hypercalciuria
Asplin JR, Donahue S, Kinder J, Coe FL — Kidney International
Applicability / notes. Longitudinal BMD data in IH stone formers; links magnitude of calciuria to femoral-neck rate of loss. Cited IH literature describes mild BMD reduction / rate-of-loss association; does not account for spine T −4.3 magnitude. The record documents one lifetime stone, passed spontaneously, and no stones on CT urogram 2026-02-27, so this cohort applies weakly rather than not at all (COR-0042).
Record overlap notes (research). elevated 24h urine calcium values (not uniformly above male 300 (mg per day unit) threshold across serial collections); ongoing bone loss research framing; IH literature describes mild BMD reduction / rate-of-loss association, not spine T −4.3 magnitude; one lifetime stone, passed spontaneously; no stones on CT urogram 2026-02-27 — a stone-forming history at its mildest end, not an absence of one
External record (DOI/PubMed/publisher) · Local PDF: never published
Worcester EM, Coe FL — Seminars in Nephrology
Applicability / notes. Authoritative Coe/Worcester pathogenesis review; PMC full text available. States BMD is often mildly decreased in IH; does not account for spine T −4.3 magnitude. The record documents one lifetime stone, passed spontaneously, and no stones on CT urogram 2026-02-27 (COR-0042).
Record overlap notes (research). elevated 24h urine calcium values research framing; normal serum calcium; calcium stone risk research framing; bone mineral loss — source describes often mildly decreased BMD; does not account for spine T −4.3; one lifetime stone, passed spontaneously; no stones on CT urogram 2026-02-27 — a stone-forming history at its mildest end, not an absence of one
External record (DOI/PubMed/publisher) · Local PDF: never published
Letavernier E, Traxer O, Daudon M, Tligui M, Hubert-Brierre J, Guerrot D et al. — Clinical Journal of the American Society of Nephrology
Applicability / notes. Filed in v0.4.0 as a second named counter for H3, in a cohort closer to this case than most - male stone formers with idiopathic hypercalciuria. Relevant to whether the 24-hour urine calcium figure predicts the severity of bone loss, which is the specific step the working model needs and the one least supported.
Record overlap notes (research). male with idiopathic-range hypercalciuria; markedly low BMD for age
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copper-deficiency
Jaiser SR, Winston GP — Journal of Neurology
Applicability / notes. Canonical review of copper deficiency myelopathy; neurologic phenotype mirrors subacute combined degeneration.
Record overlap notes (research). neuropathy-history; myelopathy-spine-pain; nutrient-deficiency-context; B12-mimic
External record (DOI/PubMed/publisher) · Local PDF: never published
Kumar N — Mayo Clinic Proceedings
Applicability / notes. Foundational Mayo Clinic review of acquired copper deficiency myelopathy (‘human swayback’): SCD-like phenotype, anemia/neutropenia, zinc excess and gastric surgery as causes; copper repletion stabilizes neurology.
Record overlap notes (research). neuropathy-history; myelopathy-spine-pain; nutrient-deficiency-context; community copper hypothesis
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Halfdanarson TR, Kumar N, Li CY, Phyliky RL, Hogan WJ — European Journal of Haematology
Applicability / notes. Mayo retrospective series of hypocupremia with hematologic abnormalities; emphasizes misdiagnosis as MDS and coexistence of neurologic disease.
Record overlap notes (research). community copper hypothesis; nutrient-deficiency-context; multi-system evaluation research framing
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CTX
Vasikaran S, Eastell R, Bruyère O, Foldes AJ, Garnero P, Griesmacher A et al. — Osteoporosis International
Applicability / notes. IOF-IFCC position paper establishing s-CTX and s-PINP as reference BTMs for research and clinical monitoring standards.
Record overlap notes (research). high CTX; CTX 616 upper normal; bone-turnover monitoring research context
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Michelsen J, Wallaschofski H, Friedrich N, Spielhagen C, Rettig R, Ittermann T et al. — Bone
Applicability / notes. SHIP population reference intervals for PINP, BAP, and CTX including 1107 men plus pre-/postmenopausal women—critical for interpreting CTX in men rather than only postmenopausal ranges.
Record overlap notes (research). CTX 616 upper normal; young adult male; bone-turnover monitoring research context
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young-male
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osteomyelitis
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CSD
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diagnostic-criteria
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igg4-rd
Stone JH, Zen Y, Deshpande V — N Engl J Med
Applicability / notes. Seminal NEJM review defining clinicopathologic spectrum. Access is paywalled; PubMed has no abstract for this review, and no local full text is held — card summary is bibliographic framing only and is NOT verified against source text. Prefer lit-0096/lit-0097 for classification-criteria statements when available.
Record overlap notes (research). elevated serum IgG4; possible orbital/lacrimal involvement; no multi-organ fibrotic disease
External record (DOI/PubMed/publisher) · Local PDF: never published
Wallace ZS, Naden RP, Chari S, Choi HK, Della-Torre E, Dicaire JF et al. — Arthritis Rheumatol / Ann Rheum Dis
Applicability / notes. ACR/EULAR 2019 criteria; threshold ≥20 points; specificity ~99% in validation. Also PMID 31796497 (Ann Rheum Dis).
Record overlap notes (research). entry organ involvement not met; serum IgG4 mild points only if entry criteria passed; no fibrotic imaging features
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myeloneuropathy
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zinc-excess
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specific-antibody-deficiency
Perez E, Bonilla FA, Orange JS, Ballow M — Frontiers in Immunology
Applicability / notes. Consensus-style expert review; defines SAD and diagnostic controversies. Essential for interpreting pneumo/Hib titers. Published corrigendum: Front Immunol 2018 (doi 10.3389/fimmu.2018.00450, PMID 29576764) — check publisher record.
Record overlap notes (research). non-protective Hib IgG (0.33; protective ≥1.00); many pneumococcal serotypes low (<0.3); normal total IgG with Ig subclass skew (IgG4↑/IgG1↓); recurrent infection history (childhood respiratory/ear)
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Lawrence MG, Borish L — Annals of Allergy, Asthma & Immunology
Applicability / notes. Practical diagnostic pearls; stresses overdiagnosis risk with mild phenotypes and multiplex assay caveats.
Record overlap notes (research). low pneumococcal serotype titers; non-protective Hib; possible SAD label without full evaluation clarity
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pneumococcal-vaccine
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vaccine-nonresponse
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hematologic
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WNT1
Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M et al. — New England Journal of Medicine
Applicability / notes. Landmark NEJM report establishing WNT1 as a human bone-mass gene: heterozygous missense → early-onset osteoporosis; biallelic nonsense → recessive OI. Free PMC full text.
Record overlap notes (research). markedly low BMD for age (~38); spine T-scores to -4.3; historical low T insufficient as sole explanation; fusion deferred for bone quality research
External record (DOI/PubMed/publisher) · Local PDF: never published
PLS3
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE et al. — New England Journal of Medicine
Applicability / notes. NEJM discovery of PLS3 (plastin-3) X-linked osteoporosis; five families with pathogenic variants; rare PLS3 variant also associated with fracture risk in elderly heterozygous women.
Record overlap notes (research). markedly low BMD for age in young man; early fractures / low BMD without classic OI; historical low T insufficient sole explanation
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LRP5
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COL1A1
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monogenic-osteoporosis
Rouleau C, Malorie M, Collet C, Porquet-Bordes V, Gennero I, Eddiry S et al. — Bone Reports
Applicability / notes. Filed in v0.4.0 to give H2 a named counter. Reports what a bone fragility gene panel actually finds in people referred for unexplained markedly low BMD for age. The reason it counts against a genetic explanation rather than for one is that the yield is partial - most people referred do not get an answer from the panel - so a genetic cause cannot be assumed from presentation alone. Complements the existing card lit-0294 rather than repeating it.
Record overlap notes (research). early-onset low BMD without an established cause; no gene panel documented in the record
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urinary-calcium
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bone-turnover
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high-turnover
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monitoring
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bone-loss
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DXA
Scope note: Project scope for this case: ISCD 2023 Adult Official Positions densitometry reporting — T-scores vs Z-scores in men under 50 (also LSC, TBS age floor, VFA indications).
Shuhart C, Cheung A, Gill R, Gani L, Goel H, Szalat A — Journal of Clinical Densitometry
Applicability / notes. Peer-reviewed executive summary of the 2023 ISCD Adult Position Development Conference (Shuhart et al., J Clin Densitom; doi 10.1016/j.jocd.2023.101435). Society positions page also at iscd.org/official-positions-2023/. Core densitometry rules used here: Z-scores preferred in males <50; osteoporosis not diagnosed by BMD alone under age 50; each DXA facility should determine its precision error and calculate the LSC (manufacturer LSC not a substitute); TBS is appropriate in adults aged ≥40 years (male fracture-risk evidence primarily studied above age 50); VFA has formal indication criteria — low BMD/young age alone is not a VFA indication without other triggers.
Record overlap notes (research). markedly low BMD for age (~38); lumbar T-scores to -4.3; forearm -3.3
External record (DOI/PubMed/publisher) · Local PDF: never published
T-score
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Z-score
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thiamine
Whitfield KC, Bourassa MW, Adamolekun B, Bergeron G, Bettendorff L, Brown KH et al. — Annals of the New York Academy of Sciences
Applicability / notes. Landmark biomarker/diagnosis roadmap; ~80% of whole-blood thiamine is erythrocyte ThDP. ETK more informative functionally; ETKAC best biochemical evidence of deficiency but limited by availability. Plasma/serum thiamine is a bidirectional-weak status indicator.
Record overlap notes (research). serum B1 7 nmol/L lab interpretation context; biomarker uncertainty
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laboratory-diagnosis
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ETK
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whole-blood-TDP
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biomarkers
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cat-scratch-disease
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musculoskeletal
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arthropathy
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myalgia
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IFA
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ELISA
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IgM
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IgG
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false-positive
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lymph-node-biopsy
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review
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IgG-subclass
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immunology
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IgG1
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immunocompetent
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histopathology
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bartonella
Edvinsson M, Norlander C, Nilsson K, Mårtensson A, Skoog E, Olsen B — Parasites & Vectors
Applicability / notes. Serology study in 224 patients with ≥6 months symptoms and presumed tick exposure; 7% B. henselae seropositive. Matched seronegative comparison found no symptom specificity—important negative-control evidence against over-attributing chronic symptoms to seropositivity.
Record overlap notes (research). persistent multi-system symptoms; arthralgia and fatigue phenotype; serology interpretation without specific symptom link; no known tick bite contrast
External record (DOI/PubMed/publisher) · Local PDF: never published
seroprevalence
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tick-exposure
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persistent-symptoms
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fatigue
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arthralgia
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babesia-diagnosis
Krause PJ, Auwaerter PG, Bannuru RR, Branda JA, Falck-Ytter YT, Lantos PM et al. — Clinical Infectious Diseases
Applicability / notes. Primary IDSA evidence-based guideline. Prefers smear/PCR over antibody for acute confirmation. Frames prolonged/relapsing disease mainly in immunocompromised hosts. Guideline is silent on FISH LDTs; smear/PCR standard is the published position — not treating FISH as endorsed. Published corrigendum (Clin Infect Dis 2021 doi 10.1093/cid/ciab275, PMID 33960362) — check publisher record.
Record overlap notes (research). commercial PCR preferred for confirmation; atovaquone-based regimens standard; serology not for acute confirmation
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babesia-treatment
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guideline
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blood-smear
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atovaquone-azithromycin
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immunocompromised
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systemic-mastocytosis
Valent P, Akin C, Hartmann K, Lyons JJ, Metcalfe DD — HemaSphere
Applicability / notes. EU/US consensus update; SM major/minor criteria, BMM, MCAS criteria, notes HαT context for tryptase interpretation.
Record overlap notes (research). tryptase-below-20; KIT-neg; no-classic-MCAS-episodes; marrow-criteria-framework
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MCAS
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KIT-D816V
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hereditary-alpha-tryptasemia
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igg4-elevation
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orbital-disease
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classification-criteria
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acr-eular
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exclusion-criteria
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male-hypogonadism
Bhasin S, Brito JP, Cunningham GR, Hayes FJ, Hodis HN, Matsumoto AM et al. — The Journal of Clinical Endocrinology & Metabolism
Applicability / notes. Major society guideline (GRADE). Diagnostic and primary/secondary classification framework.
Record overlap notes (research). total-T-34; idiopathic-hypogonadism; historical-clomiphene-response; LH-FSH-pattern
External record (DOI/PubMed/publisher) · Local PDF: never published
primary-vs-secondary
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TRT
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diagnosis
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bone-density
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estradiol
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osteoporosis-risk
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osteoporosis
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BMD
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renal-calcium-handling
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intestinal-absorption
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bone-resorption
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primary-immunodeficiency
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Hib
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diagnostic-pitfalls
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kidney-stones
Pearle MS, Goldfarb DS, Assimos DG, Curhan G, Denu-Ciocca CJ, Matlaga BR et al. — J Urol
Applicability / notes. AUA medical management guideline for adult kidney stone formers. Free full text. Statement 6 supports sodium-aware 24-h urine panels in the stone-former population. Extrapolation to this record — a minimal-burden stone-former with low BMD, one lifetime stone passed spontaneously — is the project's own inference, not a guideline claim. Not "directly portable." Statement 7: do NOT routinely perform fast-and-calcium-load testing.
Record overlap notes (research). 24h urine Ca values 283→254→333 (mg per 24h unit) (male; 2 of 3 below common 300 (mg per day unit) threshold); markedly low BMD for age with high-normal CTX; metabolic calcium-flux research framing (not a stone-former workup order)
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24h-urine
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AUA
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klinefelter-syndrome
Zitzmann M, Aksglaede L, Corona G, Isidori AM, Juul A, T'Sjoen G et al. — Andrology
Applicability / notes. European Academy of Andrology (endorsed by ESE) practice guideline: explicit karyotype indications, TRT principles, fertility, and comorbidity management for KS.
Record overlap notes (research). historical total T ~34 ng/dL; idiopathic hypogonadism; community XXY hypothesis; markedly low BMD for age
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karyotype-indication
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hypogonadism
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genetic-workup
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male-endocrine
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anemia
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neutropenia
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myelodysplasia-mimic
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small-fiber-neuropathy
Devigili G, Rinaldo S, Lombardi R, Cazzato D, Marchi M, Salvi E et al. — Brain
Applicability / notes. 2019 reappraisal + prospective validation of SFN criteria; OA on PMC. Best modern anchor for clinical + IENFD/QST rules.
Record overlap notes (research). suspected residual small-fiber symptoms; need objective SFN confirmation path; symptoms without guaranteed clinical signs
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IENFD
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QST
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validation
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osteogenesis-imperfecta
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Wnt-signaling
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genetic-bone-fragility
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X-linked-osteoporosis
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plastin-3
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pregnancy-associated-osteoporosis
Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S et al. — Osteoporosis International
Applicability / notes. n=7 consecutive women with pregnancy-associated osteoporosis; mutational analysis uncovered three novel mutations (LRP5, COL1A1, COL1A2) — 3/7 genetic yield in this small series, not a population rate. Women-only; male applicability is analogy only (physiologic stressors may unmask monogenic fragility). Does not explain spine T −4.3 magnitude by itself.
Record overlap notes (research). early markedly low BMD for age unmasked by stressor; monogenic LRP5/COL1 spectrum; idiopathic OP genetics analogy for men
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COL1A2
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idiopathic-osteoporosis-men
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genetic-panel
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PINP
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bone-turnover-markers
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reference-intervals
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bone-mineral-density
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nephrolithiasis
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osteopenia
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urolithiasis
Melton LJ 3rd, Crowson CS, Khosla S, Wilson DM, O'Fallon WM — Kidney International
Applicability / notes. Filed in v0.4.0. Population cohort reporting that excess fracture risk in stone disease was confined to the spine, with no increase at hip, pelvis, humerus or forearm. Cited as a limit on how much a stone-and-calcium mechanism can explain when low readings appear at several sites at once. Applicability here is weak in a specific and stated way - this is a cohort of symptomatic stone formers, and the documented history is a single stone in one episode, so the comparison is to the mildest end of that cohort. Do not read it as evidence that stones are harmless to bone; the vertebral signal it reports is real.
Record overlap notes (research). one lifetime stone documented; low BMD at spine, hip and forearm
External record (DOI/PubMed/publisher) · Local PDF: never published
fracture-risk
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vertebral-fracture
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population-cohort
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gene-panel
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diagnostic-yield
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secondary-causes
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idiopathic-osteoporosis
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aetiology
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