Table 1 See text for description
From: Abstracts from the 71st Annual Meeting of the British Thyroid Association
Case | Phenotype | PAX8 Mutation | Previous associations |
|---|---|---|---|
P1 | Severe CH, thyroid hypoplasia, hypospadias | p.I34F | Novel |
P2 | Mild CH, absent Tc-99m uptake in a normal sized thyroid, normal urogenital tract | p.R207* | Previously reported in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome |
P3 | Severe dysgenic CH | p.S54R | Previously reported in thyroid dysgenesis |
P4a, P4b (sisters) | Permanent gland-in-situ CH Mild CH with hemiagenesis | p.S59R | Previously associated with severe gland-in-situ CH, or goitrous CH with cryptorchidism and hydrocele |