Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with prec…
A source describes a new or expanded observation: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.
Generated 2026-11-13, last changed
yesterday. Dedup key expansion:cfc397.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
Precocious puberty or growth hormone deficiency as initial presentation in Mayer-Rokitansky-kuster-Hauser syndrome: a clinical report of 5 cases.
peer_reviewed
· published 2022-07-14
· live page
We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Precocious puberty or growth hormone deficiency as initial presenta... | pubmed | 2022-07-14 | yesterday | 1.00 |