Precocious puberty, endometriosis, skeletal anomalies and mild hearing loss: a new autosomal dominant syndrome?

J M McGaughran, Julie McGaughran, David Price, Price DA, D A Price, B. A. Kerr, Kerr BA
Clinical dysmorphology · 2001 · vol. 10(4) , pp. 235–239 · doi:10.1097/00019605-200110000-00001 · PMID:11665996 · W2051721612
article OA: closed CC0 ⤵ 1 in-corpus citation
View on OpenAlex View on PubMed View at publisher
⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

Two sisters presented with precocious puberty, short stature, endometriosis, mild hearing loss, learning difficulties, and skeletal anomalies, with some features present in their father, suggesting a new autosomal dominant syndrome.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

Abstract

Two sisters presented at 13 and 15 years-of-age respectively with a history of precocious puberty, short stature, endometriosis and mild mixed hearing loss. They had mild learning difficulties and a number of skeletal features in common. Some of these features were present in their father, suggesting a new autosomal dominant entity.

My notes (saved in your browser only)

Condition tags

endometriosis

MeSH descriptors

Bone and Bones Endometriosis Hearing Loss, Sensorineural Puberty, Precocious Adolescent Adult Bone and Bones Child Endometriosis Endometriosis Family Health Female Genes, Dominant Hearing Loss, Sensorineural Hearing Loss, Sensorineural Humans Male Puberty, Precocious Puberty, Precocious

Citation neighborhood (sparse)

Too few in-corpus citations on either side for a chart; here are the lists.

Cites (3)

Cited by (1)

References (17)

Cited by (1)

Source provenance

europepmc
last seen: 2026-08-11T06:11:44.160905+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:13:19.284922+00:00
License: CC0 · commercial use OK