Table 2.
Previously reported cases of POMC deficiency
| Age/Gender | Country/region of origin | Triad criteria (red hair, AI, obesity) |
POMC gene mutation | Reference |
|---|---|---|---|---|
| Neonatal/M | Slovenia | + | A6851T/6996del | Krude[11] |
| 4 weeks/M | Netherlands | + | C3804A/C3804A | Krude[11] |
| 6 months/F | Switzerland | + | C3804A/7100insGG | Krude[11] |
| 2 years/M | Turkey | - | C6906del/C6906del | Farooqi[12] |
| 3 years/F | Germany | + | G7013T/C7133del | Krude[10] |
| 5 years/M | Germany | + | C3804A/C3804A | Krude[10] |
| 18 years/F | North Africa | - | 6922insC/6922insC | Clément[13] |
| Unknown | Japan | unknown | GTG3895AC | Krude[9] |
* AI = adrenal insufficiency