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PubMed1981

Addison's disease associated with precocious sexual development in a boy.

An eleven-year-old boy was diagnosed to have Addison's disease with an ACTH level of over 4500 pg/ml after a short episode of fever and dehydration. From the age of 6 years his skin and buccal mucosa had been hyperpigmented but there were no other subjective complaints. The clinical examination also revealed signs of advanced puberty for his age (3rd--4th stage according to Tanner's criteria), with advanced bone age (13 years). The elevated levels of plasma testosterone and gonadotropins and their response to LH-RH stimulation were appropriate for his clinical stage of puberty and supported the diagnosis of true precocious puberty. It is proposed that the concomitant appearance of Addison's disease and precocious puberty is due to a "drift" phenomenon of LH-RH and/or gonadotropins following the prolonged elevation of ACTH secretion.

Addison Disease↗
PubMed2007

Sibling cases of Addison's disease caused by DAX-1 gene mutations.

We report two sibling cases of Addison's disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune disease. The diagnosis of primary adrenocortical insufficiency was made at the age of 5 in the younger brother and at the age of 18 in the elder brother. The younger brother had been inactive during infancy and had diffuse skin pigmentation without abnormal external genitalia, while the elder brother had been healthy until the age of 17 when he noticed skin pigmentation and small testes. Both boys had delayed puberty due to hypogonadotropic hypogonadism. The diagnosis of adrenal hypoplasia congenita (AHC) was established by genetic analysis of DAX-1 gene (dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene 1) with the same single frameshift mutation (305delG). However, yet-uncharacterized epigenetic, nongenetic and/or genetic factors other than the DAX-1 gene may be responsible for the differential onset of AHC in these sibling cases.

Addison Disease↗