Ann Clin Case Rep | Volume 3, Issue 1 | Case Report | Open Access

Two Neonatal 21-Hydroxylase Deficiency Cases without Hyperpigmentation

Ahmet Ozdemir1*, Selim Kurtoglu1,2, Ulku Gul2, Nihal Hatipoglu2 and Tamer Gunes1

1Department of Pediatrics, Division of Neonatology, Erciyes University, Turkey
2Department of Pediatrics, Division of Pediatric Endocrinology, Erciyes University, Turkey

*Correspondance to: Ahmet Ozdemir 

Fulltext PDF


The majority of cases of salt-losing congenital adrenal hyperplasia present with 21-hydroxylase deficiency in the newborn period. In females it is recognized by the uncertainty of the external genitalia and in males by macro genitalia. The presence of hyperpigmentation is an important finding of adrenocorticotropic hormone along with melanocyte stimulating hormone, especially on the nipples and genitals in babies. However, some patients may not have hyperpigmentation. This paper emphasizes that patients with 21-hydroxylase deficiency may not always have hyperpigmentation and that surrenal ultrasonography is important in the diagnostic studies.


Newborn; White Addison; 21-Hydoxylase deficiency


Ozdemir A, Kurtoglu S, Gul U, Hatipoglu N, Gunes T. Two Neonatal 21-Hydroxylase Deficiency Cases without Hyperpigmentation. Ann Clin Case Rep. 2018; 3: 1544.

Subscribe to Our Newsletter