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Imaging Case Book

Congenital adenohypophysis aplasia

Journal of Perinatology volume 28, pages 448–450 (2008)Cite this article

The abdominal sonogram failed to demonstrate an adrenal gland on either side. Although criteria are better established for congenital adrenal hyperplasia, measurable adrenal glands should be present in the normal neonate. In particular a right adrenal gland is identified in essentially 100% of newborns.1 The absence of identifiable adrenal glands suggests either deficient adrenocorticotropin hormone or adrenal hypoplasia congenita (AHC). The latter is a rare condition. It occurs in two histological forms: the miniature adult form and the cyomegalic form.2 The miniature adult variety AHC has a tiny gland with a permanent cortex making up almost the entirety of the gland. This condition can be inherited as an autosomal recessive condition or be sporadic.3 The cytomegalic variety of AHC is an X-linked recessive condition and is associated with the IMAGe syndrome. X-linked AHC is due to mutations in the DAX-l and associated with hypogonadotropic hypogonadism.4 IMAGe syndrome is a presumed autosomal recessive condition consisting of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital abnormalities. The pathology of the adrenal glands in IMAGe syndrome and X-linked AHC is similar. A definitive adrenal cortex is not present and the cortical cells that are present are markedly enlarged eosinophilic irregular cells with nuclear inclusions.3

In this patient the cortisol level was found to be low; 1.5 μg 100 ml−1 (normal 4.3 to 22.4), but the ACTH level was 5 pg ml−1 (normal 10 to 60), and the thyroxine levels and growth hormone levels were also slightly depressed. The cranial magnetic resonance imaging demonstrated absence of the anterior pituitary with the bright neurohypophysis seen posterior to the optic nerves. No pituitary stalk was identified. This is consistent panhypopituitarism and in particular with congenital adenophypophysis aplasia.5, 6 Patients with congenital adenophypophysis aplasia characteristically have severe hypoglycemia, noncholestatic jaundice, hyotonia, hypogenitalism and midline defects.6 Patients with congenital adenophypophysis aplasia have normal birth weight and length, confirming that fetal growth is independent of growth hormone. Prolonged jaundice in these children is thought to be due to thyroxine deficiency with failure of bilirubin conjugation.6 However, in some patients a neonatal hepatitis may occur with conjugated hyperbilirubinemia.7 Microphallus has been emphasized as a finding and potentially the only finding in males with hypopituitarism which should lead to an investigation of anterior pituitary function. The development and enlargement of the penis after the 14th week of gestation are due to fetal gonadal testosterone released in response to pituitary LH. If this stimulation is absent, a microphallus will occur.8

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Congenital adenohypophysis aplasia. J Perinatol 28, 448–450 (2008). https://doi.org/10.1038/sj.jp.7211930

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