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Table 1 Chronology of diagnostic examinations performed in the two patients to exclude endocrine and syndromic diseases causing severe, early-onset obesity

From: Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency

 

Age, year (y) month (m)

Suspected diagnoses

Methods

Patient 1

0 y 9 m

Hypercortisolism

Cortisol profile and dexamethasone suppression test

Hypothyroidism

Thyrotropin-releasing hormone stimulation test

Growth hormone deficiency

Insulin hypoglycaemia test and radiography

Brain tumour/brain malformation

Sonography

1 y 10 m

Prader-Willi syndrome

MS-MLPA

Chromosome aberrations

Chromosome analysis

Congenital leptin deficiency

Leptin ELISA

2 y 6 m

Brain tumour/brain malformation

MRI

Pituitary tumour

MRI

Hypercortisolism

Urinary cortisol profile

Disorder of the adipocyte differentiation

In vitro functional examination

Adrenal insufficiency

Adrenocorticotropic hormone test

Adrenal gland tumour

CT

Congenital leptin deficiency

Leptin ELISA

Prohormone convertase deficiency

Oral glucose tolerance test, proinsulin ELISA

Patient 2

1 y 11 m

Hypercortisolism

Cortisol profile

Hypothyroidism

Laboratory

Chromosome aberrations

Chromosome analysis

Insulinoma

Blood glucose profile

Prader-Willi syndrome

MS-MLPA

Pseudohypoparathyroidism

Laboratory values and radiography

Brain tumour/brain malformation

CT

Glycogenosis type I

Clinical examinations

2 y 9 m

Brain tumour/brain malformation

MRI

Hypothalamus tumour

MRI

Prader-Willi syndrome

MS-MLPA

5 y 6 m

Eating disorders

Psychological examinations

8 y 11 m

Growth hormone deficiency

l-Arginine and insulin-tolerance tests

9 y 3 m

Anterior pituitary insufficiency

Corticotropin-releasing hormone stimulation test and thyrotropin-releasing hormone stimulation test

Brain tumour/brain malformation

MRI

11 y 9 m

Pituitary tumour

MRI

12 y 2 m

Disorder of the hypothalamic-pituitary-adrenal axis

Combined pituitary stimulation test

Adrenal insufficiency

Adrenocorticotropin stimulation test

  1. CT computer tomography, ELISA enzyme-linked immunosorbent assay, MS-MLPA methylation-specific multiplex ligation-dependent probe amplification, MRI magnetic resonance imaging