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

Two Neonatal 21-Hydroxylase Deficiency Cases without Hyperpigmentation

Ahmet Ozdemir^1*, Selim Kurtoglu^1,2, 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 

Abstract

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.

Keywords:

Newborn; White Addison; 21-Hydoxylase deficiency

Citation:

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.