Comment on: Adrenal hypoplasia congenita in identical twins

To the Editor

Follow up of the case report “Adrenal hypoplasia congenita in identical twins”, published in Saudi Medical Journal in January 2019.1

The case was about a monozygotic twin brothers who presented at different ages with different presentations with confirmed genetic testing of DAX1 (NR0B1) mutation. Adrenal hypoplasia congenita is frequently associated with hypogonadotropic hypogonadism, the spectrum of presentation varies widely from pubertal failure to infertility.

The twin brothers were followed up in endocrine clinic every 3 to 4 months and their pubertal development was assessed in each visit, with the assessment of follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone level every 6 months. Both of them proceeded smoothly in normal puberty.

Their last visit was on June 2020. Their growth parameter based on CDC growth chart:

Twin A: height = 147 cm (3^rd centile), weight: 33 kg (below 3^rd centile), Pubertal staging: testes Tanner stage IV & pubic hair Tanner stage III (Table 1).

Twin B: height = 147 cm (3^rd centile), weight: 43 kg (below 10^th centile), Pubertal staging: testes Tanner stage IV & pubic hair Tanner stage III (Table 2).

Both of them proceeded smoothly in normal puberty.

In conclusion, our case study for the twin brothers with adrenal hypoplasia congenita, that both of them were having normal pubertal development.