Evidence map›Paper›PMID 39839754›Full record

ArticleJCEM case reports2025

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel

Jani Liimatta, Kay Sauter, Therina du Toit, André Schaller, Dagmar l'Allemand, Christa E Flück

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

Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
–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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. 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.

Jani LiimattaPediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.ORCID https://orcid.org/0000-0001-6076-1512
Kay SauterPediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
Therina du ToitPediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.
André SchallerClinical Genomics Laboratory, University Hospital Bern, 3010 Bern, Switzerland.
Dagmar l'AllemandDepartment of Pediatric Endocrinology and Diabetology, Children's Hospital of Eastern Switzerland, 9006 St Gallen, Switzerland.
Christa E FlückPediatric Endocrinology, Diabetology and Metabolism, Bern University Hospital, 3010 Bern, Switzerland.ORCID https://orcid.org/0000-0002-4568-5504

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

3β-Hydroxysteroid dehydrogenase 2 deficiency (3βHSD2D) is a rare form of congenital adrenal hyperplasia (CAH) with variable clinical presentation. We describe a 46, XY child with ambiguous genitalia and CAH without apparent adrenal insufficiency due to 2 novel heterozygous variants in the

Indexed as

3β-hydroxysteroid dehydrogenase 2 deficiencyambiguous genitaliaCAHcongenital adrenal hyperplasiadifference of sexual developmentDSD

Identifiers

PMID39839754
PMCPMC11744041

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.