| Pituitary | Hypopituitarism/Short stature | LSDs: MPS, sialidosis, gangliosidosis, mucolipidosis Others: haemochromatosis, acaeruloplasminaemia, Wilson’s disease, mitochondrial diseases, cystinosis, post-HSCT | TSH, free T4 and free T3, serum cortisol, LH, FSH, male testosterone/estradiol, SHBG, prolactin, IGF1, growth hormone |
| Hyperprolactinaemia | GTP cyclohydrolase deficiency, CDGs, GSD Ia | PRL |
| Thyroid | Hyperthyroidism | Fabry disease (prior to ERT), post-HSCT | TSH, free T4, free T3 |
| Hypothyroidism | Mitochondrial diseases, cystinosis, Fabry disease, GSD Ib, CGD, hyperoxaluria type I, neutral lipid storage disease | TSH, free T4, free T3, TBG |
| Transient thyroiditis | post-HSCT | TSH, free T4, free T3, anti TPO antibodies |
| Parathyroid | Hypoparathyroidism | LCHAD, MCADD mitochondrial diseases (MELAS) haemochromatosis | Serum calcium, parathyroid hormone, alkaline phosphatase |
| Ovaries | Hypogonadism | Classical galactosaemia, SLO, CDG, mitochondrial diseases, post-HSCT | LH, FSH, serum estradiol, antimullerian hormone |
| PCOS | GSD Ia | LH, FSH, serum estradiol, prolactin |
| Testicles | Hypogonadism | Haemochromatosis, mitochondrial diseases, cystinosis, X-linked ALD, post-HSCT | Serum testosterone, SHBG, LH, FSH, inhibin B |
| Adrenal gland | Adrenal insufficiency | X-linked ALD, Lesch-Nyhan syndrome, peroxisomal disorders, Fabry disease, mitochondrial diseases, post-HSCT | Serum cortisol at 9am, short synacthen test, fasting glucose |
| Pancreas | Diabetes/insulin resistance | Mitochondrial diseases, haemochromatosis, acaeruloplasminaemia, Wilson’s disease, cystinosis, organic acidurias, respiratory chain disorders, GSD I, III and V, Alström syndrome, CDGs | Random glucose, HbA1c, lipid profile, urate |
