Suppl. Table 1: Miscellaneous diagnoses and features (as specified in Fig. 1) identified in 63 patients with at least one serum androgen concentration increased above the Tanner stage- specific reference range, but no conclusive diagnosis explaining androgen excess. | Pre-pubertal N=41 | Post-pubertal N=22 |
|---|
| Girls | Boys | Girls | Boys |
|---|
| Diagnoses/ features | N=4 | N=3 | N=6 | N=0 |
| likely to be associated with or due to androgen excess | Clitoromegaly, | Bilateral adrenal hemorrhages | Clitoromegaly (resolved) | |
| resolving (n=2) |
| |
| |
| N=13 | | | | |
| Hypertrichosis, resolving | Germ cell tumor | Isolated acne (n=2) | |
| Isolated thelarche | Anti-Müllerian- Hormone resistance | Oligomenorrhea (resolved) | |
| | Excessive sweating Mood swings | |
|
| Diagnoses/ features | N=13 | N=21 | N=13 | N=3 |
| not likely to be associated with or due to androgen excess | No diagnosis (n=5) | No diagnosis (n=9) | Simple Obesity (n=9) | Delay of growth and puberty |
|
| |
| N=50 | | | | |
| Complex cloacal anomaly | Micropenis (n=2) | Road traffic accident | Buried penis, impalpable testes |
| Electrolyte abnormalities | Klinefelter syndrome | Bardet Biedl Syndrome | Wiedemann Beckwith Syndrome |
| Primary ovarian failure | Septo-optic dysplasia (n=2) | Atopic skin | |
| Alström syndrome (n=2) | Pubertal arrest/ primary gonadal failure | Silver Russell Syndrome | |
| CHARGE | CHARGE | | |
| syndrome | syndrome | | |
| Obesity | Hypospadias (n=2) | | |
| Aldosterone synthase deficiency | Alström syndrome | | |
| Prader Willi syndrome | | |
| Supra-sellar cyst | | |