RESUMO
We report a case of a 14-year-old girl with primary amenorrhea and phenotypic as well as hormonal features of complete androgen insensitivity syndrome (CAIS), who tested positive for a novel missense androgen receptor gene mutation resulting in serine-to-isoleucine change at position 703 in exon 4 in the ligand-binding domain. The interesting features of this case include a persistence of Müllerian derivatives, Sertoli cell adenoma, Tanner III pubic hair, and a normal bone mineral density. These features are not typically described in CAIS. This novel mutation associated with a unique clinical presentation serves to significantly enrich the literature on this rare and fascinating disorder of androgen insensitivity syndrome.
Assuntos
Síndrome de Resistência a Andrógenos/diagnóstico , Transtornos do Desenvolvimento Sexual/diagnóstico , Mutação de Sentido Incorreto , Mutação Puntual , Receptores Androgênicos/genética , Adolescente , Amenorreia/diagnóstico , Amenorreia/genética , Síndrome de Resistência a Andrógenos/genética , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Masculino , Neoplasias Ovarianas/patologia , Linhagem , Tumor de Células de Sertoli/patologiaRESUMO
OBJECTIVE: Allgrove syndrome (AS), also known as triple-A syndrome, is a rare disorder characterized by alacrima, achalasia, adrenal insufficiency, and other manifestations such as problems related to growth, puberty, and neuropsychological development. Although the genetics of this disorder have been studied extensively in recent decades, clinical information is still lacking. METHODS: We present a unique case of AS from which we have gained significant insight into its clinical course, especially the management of hypoglycemia. RESULTS: The patient initially presented with altered mental status at age 3 which was found to be due to hypoglycemia. Laboratory values confirmed primary adrenal insufficiency with isolated glucocorticoid deficiency. With additional history of alacrima, a genetic test was obtained which confirmed the diagnosis of AS. For over 10 years, we have been following her growth, puberty, and development. We experienced some challenges in managing her hypoglycemia initially. Certain metabolic effects of steroid overdose were noted. To resolve this problem, we found dextrose supplementation quite effective. CONCLUSION: The rarity and isolated glucocorticoid deficiency of AS pose clinical challenges for initial diagnosis. Hypoglycemia associated with alacrima should alert the suspicion of AS. Management of hypoglycemia in AS is complicated by achalasia and may benefit from incorporation of both glucocorticoid and dextrose supplementation to prevent side effects of steroid overdose.