Journal Basic Info
- Impact Factor: 1.809**
- H-Index: 6
- ISSN: 2474-1655
- DOI: 10.25107/2474-1655
Major Scope
- Breast Neoplasms
- Respiratory Medicine
- Pharmacology and Therapeutics
- Biochemistry and Biostatistics
- Signs and Symptoms-Clinical Findings
- Inflammation
- Child Birth
- Cardiovascular Medicine
Abstract
Citation: Ann Clin Case Rep. 2018;3(1):1544.DOI: 10.25107/2474-1655.1544
Two Neonatal 21-Hydroxylase Deficiency Cases without Hyperpigmentation
Ahmet Ozdemir, Selim Kurtoglu, Ulku Gul, Nihal Hatipoglu and Tamer Gunes
Department of Pediatrics, Division of Neonatology, Erciyes University, Turkey
Department of Pediatrics, Division of Pediatric Endocrinology, Erciyes University, Turkey
*Correspondance to: Ahmet Ozdemir
PDF Full Text Case Report | Open Access
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
Cite the Article:
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.