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Record W4409965311 · doi:10.1210/jendso/bvae163.2428

SUN-519 Kallman Syndrome in an Australian First Nations patient with Bigender Gender Identity

2024· article· en· W4409965311 on OpenAlexaboutno aff
Matthew I. Balcerek, Brendan J. Nolan

Bibliographic record

VenueJournal of the Endocrine Society · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Canadian institutionsnot available
Fundersnot available
KeywordsIdentity (music)MedicinePolitical sciencePhysics

Abstract

fetched live from OpenAlex

Abstract M. Balcerek: None. B. Nolan: None. J. MacLeod: None. Background: Australia’s First Nations (Aboriginal and Torres Strait Islander) peoples represent ∼4% of the Australian population. First Nations peoples have diverse concepts of gender identity that extend beyond typical Western binary and nonbinary constructs. They also have higher rates of mental illness and socioeconomic disadvantage compared to non-indigenous Australians, with similar health disparities experienced by transgender, gender diverse and nonbinary Australians. Clinical case: A 57-year-old Australian Aboriginal patient (recorded male at birth) was referred to the Gender Service for evaluation of gender incongruence by their primary care provider. The patient described negative health care experiences due to misgendering. They disclosed a bigender gender identity (both male and female), an identity embraced and celebrated in their culture. There was no dysphoria relating to their sex recorded at birth, nor physical characteristics. Their main concern was osteoporosis management, and they were subsequently referred to Endocrinology. The presence of hypogonadotrophic hypogonadism and anosmia previously prompted karyotyping, confirming a diagnosis of Kallman Syndrome. Their medical history included type 2 diabetes mellitus (T2DM) with suboptimal glycaemic control, microvascular/macrovascular complications, and autonomic dysfunction. Cardiovascular risk factors included hypertension, dyslipidaemia, and class III obesity. Osteoporosis was diagnosed in the setting of multiple previous fragility fractures. Medications included Sitagliptin/Metformin (50/1000mg bd), Insulin Aspart/Insulin Aspart Protamine (30/70 units/mL) 80 units bd, Perindopril/Amlodipine (10/10mg daily), Simvastatin 40mg daily and Pregabalin 100mg daily. They were previously treated with testosterone for pubertal induction; however, this was self-ceased at age 40 years due to perceived lack of benefit. They were not on hormonal therapy, with low serum total testosterone and estradiol concentrations (1.1 nmol/L and 72 pmol/L via immunoassay respectively), and inappropriately low gonadotrophins (FSH 0.1, LH <0.1 IU/L). Transdermal estradiol 0.1% (2mg daily) was commenced to target an estradiol concentration >200 pmol/L for bone health, rather than for feminisation. Their diabetes therapy was intensified, and they were counselled on cardiovascular risk modification. Discussion: Our case is the first report of an Australian First Nations person with Kallman syndrome and bigender gender identity, treated with both masculinising and feminising hormone therapy across their lifetime. Important medical considerations include the physiologic effect of masculinising and feminising hormones on their T2DM, cardiometabolic risk factors and osteoporosis. Culturally responsive gender affirming health care and trauma-informed practice were also essential. Sunday, June 2, 2024

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.009
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0010.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0030.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0030.003
Insufficient payload (model declined to judge)0.0030.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.017
GPT teacher head0.286
Teacher spread0.269 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations0
Published2024
Admission routes1
Has abstractyes

Explore more

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