The objective of this study was to describe a case of giant myelolipoma associated with undiagnosed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency. Five seven year-old male patient referred with abdominal ultrasound revealing a left adrenal mass. Biochemical investigation revealed hyperandrogenism and imaging exams characterized a large heterogeneous left adrenal m...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive defect in steroidogenesis, mostly affecting 21-hydroxylase enzyme deficiency. Depending on the clinical level of 21-hydroxylase deficiency, three main types of CAH are differentiated: (1) classical salt-wasting (2) simple virilizing (classical non-salt-wasting) (3) non-classical. CAH prevalence is estimated at 1 : 14 000-1 : 10 000....

Toy choices of 3- to 10-year-old children with congenital adrenal hyperplasia (CAH) and of their unaffected siblings were assessed. Also assessed was parental encouragement of sex-typed toy play. Girls with CAH displayed more male-typical toy choices than did their unaffected sisters, whereas boys with and without CAH did not differ. Mothers and fathers encouraged sex-typical toy play in childr...

Iris mammillations are dark brown, smooth, mound- or dome-shaped protuberances that are typically found on the anterior iris surface and are presumed to be congenital in origin. This congenital anomaly is usually unilateral and can be hereditary or sporadic. Lisch nodules in neurofibromatosis, tapioca melanoma of the iris, inflammatory iris granulomata and Cogan-Reese syndrome should be conside...

Abstract Introduction Adrenal myelolipomas (AMs) are rare, benign tumors without endocrine activity comprised of mature adipose and hematopoietic tissue. Surgical excision may be required for lesions which have associated symptoms, those that growing, or features concerning malignancy. Congenital adrenal hyperplasia (CAH) is often with masses such as AM. The majority literature regarding AMs co...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency enzyme required for cortisol synthesis cortex. In 90-95% cases, deficient 21-hydroxylase (21-OH), with incidence ranging from 1 5,000 to 15,000 live births across various ethnic and racial backgrounds. classical 21-OH (21-OHD) CAH, excessive androgen e...

Sommario I testicular adrenal rest tumors (TARTs) costituiscono una causa comune di disfunzione gonadica e infertilità in pazienti affetti da iperplasia surrenalica congenita ( Congenital Adrenal Hyperplasia , CAH), con prevalenza che varia dal 14 all’86%. Dal punto vista biochimico, istologico molecolare, i TARTs mostrano caratteristiche tipiche delle cellule surrenaliche per questo si è ipoti...

Classic congenital adrenal hyperplasia affects approximately 1 in 15,000 children. Current treatment strategies using multiple daily doses of hydrocortisone lead to suboptimal outcomes. We tested the hypothesis that nocturnal administration of dexamethasone will suppress the hypothalamic-pituitary-adrenal axis more effectively than standard hydrocortisone treatment by blocking the inherent diur...

We describe a patient with signs and symptoms of virilization caused by 21-hydroxylase deficiency. The patient, a Hispanic woman, first sought medical attention at age 24, when she presented to a medical clinic with an uncomplicated urinary tract infection. At that time several signs of virilization were noted and she was referred to the endocrinology clinic. Evaluation revealed temporal baldin...