Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma

Mermejo, Lívia Mara; Elias, Jorge; Saggioro, Fabiano Pinto; Tucci, Sílvio; Castro, Margaret de; Moreira, Ayrton Custódio; Elias, Paula Condé Lamparelli

doi:10.1590/s0004-27302010000400012

Cited by 25 publications

(20 citation statements)

References 23 publications

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“…Although 17OHP has long been used to guide the management of 21OHD, its serum concentration correlates poorly with DHEA and androstenedione 127 . DHEAS, the major C 19 adrenal product, can be paradoxically low in 21OHD patients with inadequate control 128–130 . Moreover, there is no good correlation between the routinely measured androgens (androstenedione and, in women, testosterone) and clinical evidence of androgen excess 131,132 .…”

Section: Treatment Of Cahmentioning

confidence: 99%

The next 150 years of congenital adrenal hyperplasia

Turcu

Auchus

2015

The Journal of Steroid Biochemistry and Molecular Biology

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Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess.

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Section: Treatment Of Cahmentioning

confidence: 99%

The next 150 years of congenital adrenal hyperplasia

Turcu

Auchus

2015

The Journal of Steroid Biochemistry and Molecular Biology

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“…Despite this high frequency, adrenocortical tumors in this setting are most likely to be benign, as malignant lesions are rare (36). In many reports CT scans showed nodules (36-38) that may regress with adequate therapy (37), adenomas (23), myelolipomas (39), and the typical pattern of diffuse enlargement (38) with a heterogeneous enhancement (Figure 3).…”

Section: Computed Tomographymentioning

confidence: 99%

The role of imaging in congenital adrenal hyperplasia

Teixeira

Elias²,

Andrade

et al. 2014

Arq Bras Endocrinol Metab

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Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. Arq Bras Endocrinol Metab. 2014;58(7):701-8 Keywords Adrenal hyperplasia, congenital; magnetic resonance imaging; computed tomography; ultrasonography; diagnostic imaging RESUMO Hiperplasia congênita de suprarrenal (CAH) é uma doença autossômica recessiva causada por deficiências enzimáticas na esteroidogênese. Clinicamente, os pacientes com CAH podem apresentar insuficiência adrenal com ou sem perda de sal, vários graus de virilização e diminuição na fertilidade, alta incidência de restos adrenais testiculares e de tumores adrenais. O diagnóstico de CAH é feito baseado nos resultados da avaliação hormonal e genotípica, em casos selecionados. O seguimento dos pacientes é principalmente feito com avaliação clínica e hormonal. Métodos de diagnóstico por imagem podem ser muito úteis não só no diagnóstico como no manejo e seguimento dos pacientes com CAH. Porém, as recomendações, de acordo com a maioria dos consensos, quando existem, são escassas. Nesse contexto, com base em uma revisão sistemática, o objetivo deste artigo foi sintetizar a literatura em relação a como os métodos de diagnóstico por imagem podem ser úteis no manejo dos pacientes com CAH, com foco em genitografia, ultrassonografia, tomografia computadorizada e ressonância magnética.Arq Bras Endocrinol Metab. 2014;58(7):701-8 Descritores

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“…There are few reports of bilateral adrenal myelolipomas associated with adrenogenital syndrome caused by 21-OH deficiency made in the adult age in the course of evaluating bilateral large adrenal incidentalomas (17,18,20,23,(26)(27)(28)(32)(33)(34)(35)(36). On the other hand, to our knowledge there are two previus reports of the diagnosis of 46XX DSD patients with CAH due to 21 OHD assigned as male made in adult age in the course of evaluating large adrenal incidentalomas (17).…”

Section: -Hydroyxlase Deficiencymentioning

confidence: 99%

Bilateral Adrenal Myelolipoma in a 46 XX DSD patient with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency. case report

Sancak¹

2013

Acta Endo (Buc)

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Increased frequency of adrenal tumours and adrenal myelolipoma has been reported in patients with 21-hydroxylase deficiency (21-OHD). Adrenal myelolipoma is an uncommon, benign, biochemically nonfunctioning tumor and occasionally reported in association with endocrine disorders. Diagnosis of myelolipomas is based on imaging with ultrasonography, CT or MRI being effective in more than 90% of cases.We present a 34-year-old man with massive bilateral adrenal masses which was detected on computed tomography and was diagnosed as 21-hydroxylase deficiency (21-OHD) based on biochemical findings. Computerized tomography of the abdomen demonstrated bilaterally very low-density adrenal masses (16x28 mm on the right side and 91x88 and 33x30 mm on the left side) consistent with adrenal myelolipomas.Since myelolipomas are considered as benign tumors, he was not operated. Tumor size did not increase during two year follow-up periods.It is recommended to the physicians to be aware of increased frequency of benign adrenal tumors that occur frequently in patients with 21-OHD. Untreated Congenital Adrenal Hyperplasia CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should always be ruled out in incidentally detected adrenal masses to avoid unnecessary surgical procedures.

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Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma

Cited by 25 publications

References 23 publications

The next 150 years of congenital adrenal hyperplasia

The next 150 years of congenital adrenal hyperplasia

The role of imaging in congenital adrenal hyperplasia

Bilateral Adrenal Myelolipoma in a 46 XX DSD patient with Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency. case report

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