Four male cousins showed clinical and biochemical features of X-linked recessive congenital adrenocortical hypoplasia. In addition, they showed varying degrees of androgenic precocity. One was virilised at birth. Another showed advanced growth and skeletal maturation. The remaining two had genital measurements greater than normal for age and showed raised testosterone levels, although pituitary...

The unusual orphan member of the nuclear hormone receptor superfamily DAX-1 (NR0B1) owes its name to its double role in human pathology. On one side, duplications in Xp21, containing the DAX-1 gene, cause phenotypic sex reversal in XY individuals. On the other side, DAX-1 gene mutations are responsible for adrenal hypoplasia congenita, invariably associated with hypogonadotropic hypogonadism. D...

IMAGe syndrome is an exceedingly rare condition first described in 1999. Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. Cases generally present with life-threatening adrenal insufficiency in the neonatal period. Herein, we describe a patient with pronounced IUGR diagnosed with severe hyperpigment...

We report a case of congenital adrenal hypoplasia who presented with primary adrenal insufficiency in infancy. Fluorescent in situ hybridization identified a deletion of DAX-1 gene on his X chromosome. He improved dramatically after the hydrocortisone, fludrocortisone and sodium chloride treatment.

ar enlargement, and no other signs of sexual development; ome mechanisms proposed for this phenomenon impliate the NR0B1 gene in the prepubertal control mechanism f the gonadal axis, ACTH-mediated stimulus of testicuar steroidogenesis, or autonomous hyperplasia of Leydig ells.2 In the pubertal period, these patients will require estosterone replacement for the development of secndary sexual cha...

Adrenal hypoplasia congenita (AHC) is a rare disorder. The X-linked form is related to mutations in the DAX1 (NROB1) gene. Here, we report a newborn who had a novel hemizygous frameshift mutation in DAX1(c.543delA) and presented with primary adrenal failure that was initially misdiagnosed as congenital adrenal hyperplasia. This report highlights the value of genetic testing for definite diagnos...

We present a case in which an intracranial tumour replacing all intracranial contents was diagnosed by sonography at 31 weeks' gestation. The patient was delivered by caesarean section and died shortly after delivery. At necropsy, the tumour was found to be a teratoma with no recognisable normal brain tissue present. Additional findings at necropsy included pulmonary and adrenal hypoplasia. The...