Evidence map›Paper›PMID 41488132›Full record

ArticleFrontiers in endocrinology2025

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient.

Alice Casiraghi, Irene Campi, Silvia Federici, Franco Cernigliaro, Soara Menabò, Luca Persani

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Alice CasiraghiDepartment of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Irene CampiDepartment of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Silvia FedericiDepartment of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.
Franco CernigliaroDepartment of Radiology, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Soara MenabòMedical Genetics Unit, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Luca PersaniDepartment of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classic Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency is typically diagnosed in early life. We report a 46,XX completely virilized 46,XX patient who was diagnosed with classic CAH at the age of 73 years. He was under follow-up for prostate hyperplasia and referred after the finding of giant bilateral adrenal myelolipomas. He presented with hormonal values initially interpreted as suggestive of hypogonadotropic hypogonadism, prompting further biochemical and genetic analysis. Next-generation sequencing identified heterozygous variants in X-linked genes, uncovering a 46,XX difference of sex development (DSD). Then,

Indexed as

46, XX Disorders of Sex DevelopmentAdrenal Hyperplasia, CongenitalDelayed DiagnosisVirilismAgedFemaleHumansSteroid 21-HydroxylaseCYP21A2 protein, humanSteroid 21-Hydroxylase46,XX disorder of sex developmentadrenal myelolipomacase reportcongenital adrenal hyperplasiadiagnostic delayskene gland hyperplasia

Identifiers

PMID41488132
PMCPMC12756138

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.