Table 1.
Clinical and Laboratory summary of the case
| On admision | |
|---|---|
| Age, years | 2 years and 8 months |
| Sex | Female |
| Phenotype | Acanthosis nigricans of neck, bilateral mild breast development (B2), no pubic hair, and no clitoromegaly |
| History | |
| Gestational age | Term |
| Birth weight | 1.89 kg |
| Family history | No endocrinopathies |
| Laboratory | |
| HbA1c (20–42), nmol/L | 34 |
| Fasting glucose, (fasted for 8 h), mmol/L | 2.4 |
| Insulin (mU/L) | >300 |
| C-peptide, pmol/L | 252 |
| GnRH test − peak LH, IU/L | 2.1 |
| GnRH test − peak FSH, IU/L | 19.9 |
| Estradiol, pmol/L | <44 |
| GAD antibodies | Negative |
| NEFA, mmol/L | 0.64 |
| B-hydroxybutyrate, mmol/L | 0.05 |
| 25 OH vitamin D, nm/L (>50) | 21 |
| Genetic analysis | |
| INSR gene | Heterozygous deletion of exon 22 |
Normal thyroid function test, cortisol, ammonia, lactate, plasma amino acids, urine organic acids, acylcarnitine profile. INSR, insulin receptor.