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Table 1 Endocrine manifestations of inborn errors of metabolism in adults

From: Endocrine manifestations related to inherited metabolic diseases in adults

IEM
General classification
IEM associated with endocrine manifestations and most important mechanism ENDOCRINE MANIFESTATIONS
   Diabetes Dysthyroidism Hypopara-
thyroidism
Adrenal failure Hypogonadism Hypopituitarism
INTOXICATION
Metal intoxication
Haemochromatosis
Aceruleoplasminemia
Wilson's
Sugar intolerances
Galactosaemia
Most organic acidurias
Haemochromatosis
Iron storage
Diabetes
10%
< 1% < 1% < 1% Hypogonadotropic
5-10%
< 1% except for acquired iron overload and hypogonadism
  Aceruloplasminemia
Iron storage
Diabetes      rare
  Wilson's disease
Copper storage
   Hypoparathyroidism
rare
   
  Galactosaemia
Galactose metabolites
     Hypergonadotropic
in female
Short stature
  Organic aciduria
Organic acids
Possible ketoacidosis
pancreatitis
     
ENERGY DEFECT
Mitochondrial disorders:
Respiratory chain disorders
Fatty acid oxidation defects
Respiratory chain defect
Deficient energy production
Diabetes All types of thyroid dysfunction Hypoparathyroidism
rare
Subclinical
adrenal failure
Hypogonadotropic Hypopituitarism
Short stature
30 to 50%
  LCHAD
Deficient energy production
   Hypo-
parathyroidism
   
Cytoplasmic energy defects
Disorders of glycogen metabolism
Glycogenosis
Glycogen storage
(type I, III)
Diabetes Thyroid dysfunction
(type Ib)
   Mixed or undetemined
PCOS (type I)
 
COMPLEX MOLECULES
Peroxisomal disorders
X-linked adreno-leukodystrophy
Perrault syndrome
VLCFA accumulation
    Adrenal failure Mixed or undetemined
(mainly hypergonadotropic)
 
Lysosomal disorders Fabry disease
Globoside storage in lysosomes
  Subclinical
hypothyroidism
  Subclinical adrenal failure Infertility  
  Cystinosis
Cystine in lysosomes
Diabetes Hypothyroidism
75%
   Hypergonadotropic Short stature
30 to 50%
Disorders of intracellular trafficking and processing such as
Congenital disorders of glycosylation
Inborn errors of cholesterol synthesis.
CDG I
Abnormal glycosylated proteins
  Congenital hypothyroidism    Mixed or undetermined
mainly hypergonadotropic
 
  Multisystemic triglyceride storage disease
Triglyceride storage in endoplasmic reticulum
  Thyroid dystrophy     
  Type 1 hyperoxaluria
Oxalate
  Hypothyroidism     Advanced bone
age
  Type B Niemann-Pick disease
Sphingolipid storage in lysosomes
    Partial
rare
  Short stature
TRANSPORTER
DEFECT
Rogers syndrome:
Thiamine-sensitive megaloblastic anaemia
Defective ATP production in ß cells
Diabetes      
  MCT8 deficiency
Defective T3 transport in neurons
  High blood T3     
  Alström syndrome Diabetes Hypothyroidism    Hyper- and hypogonadotropic (men)
PCOS in women
Rare hypopituitarism
Initial advanced bone age
  Selenoprotein deficiency disorder   Low T3-High T4    Oligospermia Short stature
  1. CDG: congenital disorders of glycosylation; IEM: inborn errors of metabolism; LCHAD: long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency; MCT8: Monocarboxylate transporter; PCOS: polycystic ovary syndrome; T3: triiodothyronine; T4: thyroxine; VLCFA: Very long chain fatty acids.