Primary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of theDAX1Gene

Abstract

Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene 1 (DAX1) gene. The DAX1 gene is expressed in the adrenal cortex, the pituitary gland, the hypothalamus, the testis, and the ovary. Most affected infants present with failure to thrive, salt wasting, and hypoglycemic seizure in early life. Immediate mineralocorticoid and glucocorticoid replacement is essential. Most boys with AHC present with hypogonadotropic hypogonadism, resulting in failure to enter puberty and the need for testosterone treatment. However, a recent study revealed that the onset of puberty in boys with AHC can be variable, ranging from arrested or absent to precocious. We describe a case involving a newborn who presented with primary adrenal insufficiency due to a mutation of the DAX1 gene and was finally diagnosed with AHC.

Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia

“…Three patients with a hemizygous frame shift mutation in DAX1 (c.543delA) have been described in the literature pertaining to AHC. In addition, we are aware of another AHC patient with the same mutation as our patient [6]. That patient was delivered at 38 weeks of gestational age with a birth weight of 3160 g. He was admitted to the There was no change in urine osmolality during the water deprivation test, while a greater than fivefold increase in urine osmolality was observed after administration of vasopressin neonatal ICU at birth because of neonatal respiratory distress syndrome.…”

A novel mutation in the DAX1 gene in a newborn with adrenal hypoplasia congenita in Korea

“…It has been established that DAX1 gene mutations play an important role in the frequent occurrence of HH in AHC patients. The most common pubertal disorder due to AHC, regarding DAX1 gene mutation is the absence of or delay in puberty caused by disorders of the secretion of gonadotropin [11]. HH usually becomes apparent during adolescence even if the hypothalamic-pituitary-gonadal axis is usually intact in infancy.…”