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 |