Growth hormone insufficiency in a girl with the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited disease which may comprise many endocrine and non-endocrine components. GH insufficiency has not been recognised as a classical manifestation of this syndrome. We describe the case of a girl with APECED, who presented with four endocrine (hypoparathyroidism, Addison's disease, hypothyroidism, gonadal failure) and three non-endocrine components (candidiasis, ectodermal dystrophy and lichen ruber planus). In addition, growth failure was documented beginning at approximately 8 years; bone age was delayed and stimulated GH peaks after clonidine and arginine were 2.2 and 9.2 microg/l, respectively. A partial empty sella was found on a computed tomography scan of the hypothalamic-pituitary region. At 10.5 years rhGH therapy was started and height gain of 26 cm was observed after 2.7 years of treatment. Puberty started at 11.2 years and menarche occurred at 12.7 years. At 13.25 years rhGH therapy was discontinued owing to frequent hypocalcemic crises; serum IGF-1 levels were persistently low in the following years (between 160 and 180 microg/l, normal range for age 250-600 microg/l). The patient attained a final height of 160.8 cm, which was appropriate for her target height. The presence of lichen ruber planus and GH insufficiency probably secondary to empty sella are two unusual findings in patients with APECED.

Autoimmune polyglandular syndrome Type 3 and growth hormone deficiency

“…To our knowledge, there has been no reported case of isolated GHD with APS Type 3. However, GHD has been reported in cases of APS Type 1 and 2 (13–16). Partial GH deficiency was associated with empty sella in one case (13) and autoimmune hypophysitis was proposed as the etiology of the other cases (14–16).…”

“…In approximately 20% of cases of autoimmune hypophysitis, other autoimmune diseases co‐exists most commonly thyroid disease. Possible mechanism for GHD may involve selective loss of somatotrophs from targeted autoimmune aggression (13, 15) or gammaglobulins that have inhibitory effect on anterior pituitary hormone secretion (18).…”

The hidden but positive role for glucocorticoids in the regulation of growth hormone-producing cells

“…APS is characterized by the presence of more than one autoimmune endocrine disease (Papathanasiou et al, 2007;Zung et al, 1997;Franzese et al, 1999). Characteristics of APS, subtype-1, are hypoparathyroidism and autoimmune Addison's disease.…”

Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1

“…Hypopituitarism is a rare manifestation of APS1. Isolated growth hormone (GH)-deficiency has to the best of our knowledge only been reported in 10 APS1 patients (6,(13)(14)(15)(16)(17), isolated hypogonadotroph hypogonadism in one patient (13) and central diabetes insipidus in three (18)(19)(20). Three siblings with APS1 and partial adrenocorticotropic hormone deficiency have been described (21).…”