Adrenal hypoplasia congenita: Delayed presentation of a rare cause of primary adrenal insufficiency
نویسندگان
چکیده
منابع مشابه
Adrenal Hypoplasia Congenita: A Rare Cause of Primary Adrenal Insufficiency and Hypogonadotropic Hypogonadism
Primary adrenal insufficiency is defined by the impaired synthesis of adrenocortical hormones due to an intrinsic disease of the adrenal cortex. Determining its etiology is crucial to allow adequate long-term management and genetic counseling. We report the case of a male adolescent that presented in the neonatal period with adrenal crisis and received replacement therapy for primary adrenal in...
متن کاملPrimary Adrenal Insufficiency in a Newborn With Adrenal Hypoplasia Congenita Caused by a Mutation of the DAX1 Gene
Adrenal hypoplasia congenita (AHC) is a rare inherited disorder of the adrenal gland caused by deletion or mutation of the dosage-sensitive sex-reversal AHC critical region on the X chromosome, gene 1 (DAX1) gene. The DAX1 gene is expressed in the adrenal cortex, the pituitary gland, the hypothalamus, the testis, and the ovary. Most affected infants present with failure to thrive, salt wasting,...
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Adrenal insufficiency can often manifest with nonspecific complaints. Primary adrenal lymphoma is a rare cause of adrenal insufficiency. We present the case of a 55-year-old female who presented with nonspecific complaints of abdominal pain, pallor and weight loss and was found to have primary adrenal lymphoma. The case highlights the need to expeditiously initiate steroid replacement in patien...
متن کاملAdrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydro...
متن کاملAdrenal insufficiency: an uncommon cause of fatigue.
BACKGROUND Adrenal insufficiency is a rare condition that can cause common and nonspecific symptoms. One such symptom, reported by all patients with adrenal insufficiency, is fatigue. On the other hand, up to 20% of patients seeking care from primary care physicians will have fatigue as a complaint. Only a small percentage of patients are found to have underlying medical disease. METHODS A ME...
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ژورنال
عنوان ژورنال: Sri Lanka Journal of Child Health
سال: 2018
ISSN: 2386-110X,1391-5452
DOI: 10.4038/sljch.v47i1.8436