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. 2023 Aug 25;4(3):258–267. doi: 10.1515/almed-2023-0071

Table 3:

Clinical findings in CAH patients with CAH-X chimeras who underwent clinical evaluation in the following hospitals: La Paz University Hospital, Marqués de Valdecilla Hospital and Virgen de la Arrixaca Hospital.

Patient Gender CAH phenotype Musculo-skeletal manifestations Cutaneous manifestations Gastrointestinal manifestations Cardiac manifestations Other
CAH-X CH1

P-004 F SW Haematomas
P-053 M NC
P-098 F NC Dislocations Cutaneous hypersensitivity
P-134 M FH Dislocations, chronic arthralgia
P-154 F NC Hypertrophic scar after laparoscopy (cholecystectomy), haematomas in the lower limbs Normal cardiological evaluation Pes planus in childhood

SCAH-X CH2

P-032 F FH Perthes disease, Giand lung bulla
P-041 M SW Chronic arthralgia, dislocations, tendinitis/bursitis/fasciitis Colitis/proctitis
P-062 M SW Tendonitis/bursitis/fasciitis
P-074 F NC
P-144 F SV Chronic arthralgia (fingers, knuckles, wrists and in the neck), mild scoliosis, extensor pollicis brevis tendonitis) Frequent hematomascol Normal cardiological evaluation

F, female gender; FH, functional hyperandrogenism; CAH, congenital adrenal hyperplasia; M, male gender; NC, non-classic forms of CAH; SW, classic salt-wasting form; CAH-X, SCAH-X syndrome; SV, classic simple-virilizing form.