title: Salt Losing Variety of Congenital Adrenal Hyperplasia--A Case Report.
abstract: Congenital adrenal hyperplasia is a genetic endocrinologic disorder. The severe classic form occurs in one in 15,000 births worldwide. Twenty-one-hydroxylase deficiency (21-OHD) is the most common cause in this autosomal recessive disease. It can cause virilization, ambiguous genitalia at birth and severe life threatening condition due to salt wasting. In this report we describe the clinical course of a male neonate presenting with lethargy, failure to thrive (FTT), genital pigmentation, electrolytes imbalance and high serum 17-hydroxy-progesterone (17-OHP) level and subsequently diagnosed as Congenital Adrenal Hyperplasia. After the initial crises management, the child was continued on replacement therapy. During the follow up, he was found to grow appropriately and achieving normal milestones for age.
authors.affiliation: Dr Nazmun Nahar, Resident, Department of Neonatology, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh.
authors.forename: N
authors.initials: N
authors.lastname: Nahar
authors.forename: A C
authors.initials: AC
authors.lastname: Dey
authors.forename: K A
authors.initials: KA
authors.lastname: Khan
authors.forename: S K
authors.initials: SK
authors.lastname: Dey
authors.forename: M A
authors.initials: MA
authors.lastname: Mannan
authors.forename: M
authors.initials: M
authors.lastname: Shahidullah
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis* / Q000209:etiology*; D001459:Bangladesh; D003937:Diagnosis, Differential; D005438:Fludrocortisone / Q000627:therapeutic use*; D020249:Hormone Replacement Therapy; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use*; D007231:Infant, Newborn; D008297:Male; D012965:Sodium Chloride / Q000378:metabolism
chemical_list: D012965:Sodium Chloride; D019326:17-alpha-Hydroxyprogesterone; D005438:Fludrocortisone; D006854:Hydrocortisone