scholarly journals Massive adrenal incidentalomas and late diagnosis of congenital adrenal hyperplasia in prostate cancer

2017 ◽  
Vol 2017 ◽  
Author(s):  
Xin Feng ◽  
Gregory Kline
Keyword(s):  
Prostate Cancer ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Crisis ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Glucocorticoid Treatment ◽  
Adrenal Myelolipoma ◽  
Efficacious Treatment ◽  
Adrenal Masses

Summary In a 61-year-old Caucasian male with prostate cancer, leuprolide and bicalutamide failed to suppress the androgens. He presented to endocrinology with persistently normal testosterone and incidental massive (up to 18 cm) bilateral adrenal myelolipomas on CT scan. Blood test did not reveal metanephrine excess. The patient was noted to have short stature (151 cm) and primary infertility. Elementary school photographs demonstrated precocious puberty. Physical examination revealed palpable abdominal (adrenal) masses. Abiraterone and glucocorticoid treatment was commenced with excellent suppression of testosterone. Genetic testing revealed a mutation in CYP21A2 confirming 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH). Association of large myelolipomas with CAH has been reported in the literature. Our case highlights the importance of considering CAH in patients with non-suppressed testosterone despite androgen deprivation therapy. Large myelolipomas should raise the suspicion of congenital adrenal hyperplasia. Learning points: Adrenal myelolipomas are rare benign lesions that are more common in patients with longstanding untreated congenital adrenal hyperplasia thought to be due to ACTH stimulation. Consider undiagnosed congenital adrenal hyperplasia in patients with adrenal myelolipoma. Glucocorticoid replacement may be an efficacious treatment for patients with prostate cancer and CAH. Abiraterone therapy has a risk of adrenal crisis if glucocorticoids are not replaced.

Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ilja Dubinski ◽  
Susanne Bechtold Dalla-Pozza ◽  
Martin Bidlingmaier ◽  
Nicole Reisch ◽  
Heinrich Schmidt
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Pubertal Development ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Glucocorticoid Treatment ◽  
Steroid Synthesis ◽  
Prepubertal Children ◽  
Salt Wasting ◽  
17 Hydroxyprogesterone

Abstract Objectives Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy with glucocorticoid (GC) and mineralocorticoid hormones to avoid salt-wasting crisis and other complications. Most commonly, children receive hydrocortisone thrice daily with the highest dose in the morning, mimicking the regular physiology. However, reverse circadian treatment (RCT) had been suggested previously. In this study, we aimed to determine the efficacy of RCT in prepubertal children with CAH by comparing the salivary 17-hydroxyprogesterone (s17-OHP) levels individually. Methods In this retrospective study, we analyzed the records of children with classical CAH and RCT who were monitored by s17-OHP levels. The study included 23 patients. We identified nine prepubertal children with RCT schemes (three boys and six girls) and compared the s17-OHP levels in the morning, afternoon, and evening. The objective of this study was to demonstrate the non-effectiveness of RCT in terms of lowering the morning s17-OHP concentration. In addition, we compared s17-OHP day profiles in six patients on RCT and non-RCT therapy (intraindividually). Results Eight of nine children with RCT showed higher s17-OHP levels in the morning compared to the evening. In addition, none of the children showed a significant deviation of development. Three children were overweight. No adrenal crisis or pubertal development occurred. Comparison of RCT and non-RCT regimens showed no difference in 17-OHP profiles. Conclusions Our data do not support the use of RCT schemes for GC replacement in children with CAH due to lack of benefits and unknown long-term risks.

scholarly journals SUN-173 A Gigantic Uterine Leiomyoma and Big Bilateral Adrenal Myelolipomas as a Result of Untreated Congenital Adrenal Hyperplasia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Betty La ◽  
Ha Nguyen ◽  
Celestine Tung ◽  
Eugene Choi
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Insufficiency ◽  
Adrenal Mass ◽  
Uterine Leiomyoma ◽  
Pelvic Mass ◽  
Treatment Compliance ◽  
Total Testosterone ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Adrenal Masses

Abstract Introduction Patients with untreated congenital adrenal hyperplasia (CAH) can present early with severe symptoms of salt wasting, adrenal insufficiency and hyperandrogenism. Late consequences as a result of long term untreated CAH are rarely seen nowadays. We present a patient who presented with a massive uterine leiomyoma and bilateral adrenal myelolipomas due to longstanding treatment noncompliance. Clinical Case A female was born with ambiguous genitalia and diagnosed with CAH at birth. She was raised as a female and received steroids until age 29 when she stopped taking steroids on her own with the intention of identifying as a male. At age 37, he presented with abdominal distension, vomiting, and hypotension. Physical exam was notable for hypotension, significantly distended abdomen, hirsutism, gynecomastia and clitoromegaly. Labs revealed sodium 126 meq/L (136–145) cortisol 78.5 ug/dL (3.7–19.4), ACTH 166 pg/mL (6–50), 17-hydroxyprogesterone 4356 ng/dL (≤285), androstenedione 7188 ng/dL (35–250), total testosterone 737 ng/dL (2–45), estradiol 142 pg/mL (48–440), aldosterone <1 ng/dL (3–16), renin 0.45 ng/mL/hr (0.25–5.82), metanephrines 56 pg/mL (≤205), normetanephrines 56 pg/mL (≤148). CT abdomen and pelvis revealed a large 31 x 35 x 31 cm pelvic mass, a 5.9 x 2.4 cm right adrenal mass and an 11.8 x 8.8 cm left adrenal mass. The patient underwent total abdominal hysterectomy and bilateral adrenalectomy. Pathology of the pelvic mass was consistent with uterine leiomyoma (gross tumor was 12.4 kg) and pathology of the bilateral adrenal masses were consistent with bilateral adrenal myelolipomas. Discussion Glucocorticoids and mineralocorticoids are the mainstays of treatment in CAH, with the goal of providing adequate replacement while reducing levels of ACTH and adrenal androgens. Persistently elevated levels of ACTH and androgens can lead to many serious sequela, even outside of adrenal insufficiency and virilization. Due to the conversion of androgens to estrogens, untreated females with CAH have significantly elevated levels of both hormones. These high levels of androgens and estrogen can then stimulate growth of estrogen-dependent organs as exemplified by our patient. Chronic ACTH stimulation can cause adrenal hyperplasia, but has also been associated with the development of other adrenal masses including adrenal myelolipomas. Adrenal myelolipomas can become hormonally functional or cause mass effect, hemorrhage, necrosis when reaching a large enough size. Conclusion This case demonstrates the importance of CAH treatment compliance as there are many serious sequela outside of the expected adrenal insufficiency and virilization. Even when the desired effect is virilization with physical male features, other means of hormonal therapy should be considered as there remains the risks of abnormal growth of certain organs sensitive to the excessive hormones.

scholarly journals Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
S. Al-Bahri ◽  
A. Tariq ◽  
B. Lowentritt ◽  
D. V. Nasrallah
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Abdominal Distension ◽  
Adrenal Hyperplasia ◽  
Hematopoietic Tissue ◽  
Hydroxylase Deficiency ◽  
Adrenal Myelolipoma ◽  
Massive Growth ◽  
History Of ◽  
Adrenal Masses ◽  
The Right

Myelolipomas are rare and benign neoplasms, predominant of the adrenal glands, consisting of adipose and mature hematopoietic tissue, commonly discovered incidentally with increased use of radiologic imaging. Few cases of giant bilateral adrenal masses are reported, especially in the setting of congenital adrenal hyperplasia (CAH). We report the case of a 39-year-old male with a history of CAH secondary to 21-αhydroxylase deficiency on steroids since childhood, self-discontinued during adolescence, presenting with abdominal distension, fatigue, decreased libido, and easy bruising. Imaging revealed giant bilateral adrenal masses. He subsequently underwent bilateral adrenalectomy found to be myelolipomas measuring 30 × 25 × 20 cm on the left and weighing 4.1 kg and 25 × 20 × 13 cm on the right and weighing 2.7 kg. Adrenal myelolipomas are found to coexist with many other conditions such as Cushing’s syndrome, Addison’s disease, and CAH. We discuss the association with high adrenocorticotropic hormone (ACTH) states and review the studies involving ACTH as proponent leading to myelolipomas. Massive growth of these tumors, as in our case, can produce compression and hemorrhagic symptoms. We believe it is possible that self-discontinuation of steroids, in the setting of CAH, may have resulted in the growth of his adrenal masses.

CHROMATOGRAPHY OF THE 17-KETOGENIC STEROIDS IN THE DIAGNOSIS AND CONTROL OF CONGENITAL ADRENAL HYPERPLASIA

1960 ◽  
Vol XXXIII (II) ◽  
pp. 230-250 ◽  
Author(s):  
Eileen E. Hill
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Normal Children ◽  
Paediatric Practice ◽  
The Mean ◽  
Cortisone Therapy ◽  
And Control ◽  
Clinical Problems ◽  
Stimulation Of

ABSTRACT A method for the fractionation of the urinary 17-ketogenic steroids with no oxygen grouping at C11 and those oxygenated at C11, is applied to the clinical problems of congenital adrenal hyperplasia. In normal children the mean ratio of the non-oxygenated to oxygenated steroids is 0.24. In childrern with congenital adrenal hyperplasia the ratio is 2.3. The reason for this difference in ratio is discussed. The changes in ratio found under stimulation of the adrenal gland with exogenous or endogenous corticotrophin and the suppression with cortisone therapy are studied. This test can be applied to isolated samples of urine, a major advantage in paediatric practice, and can be carried out in routine laboratories. It is found to be reliable in the diagnosis and sensitive in the control of congenital adrenal hyperplasia.

scholarly journals Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia

2015 ◽  
Vol 2015 ◽  
Author(s):  
Geetanjali Kale ◽  
Elaine M Pelley ◽  
Dawn Belt Davis
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Treatment Option ◽  
Chronic Back Pain ◽  
Ct Imaging ◽  
Bilateral Adrenalectomy ◽  
List Type ◽  
Low Density ◽  
Adrenal Hyperplasia ◽  
Alternative Treatment Option ◽  
Patient Reported

Summary Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with classic salt-wasting CAH managed on prednisone 7.5 mg daily and fludrocortisone who presented with chronic back pain and was found to have giant bilateral retroperitoneal masses. On computed tomography (CT) imaging, the masses were heterogeneous, but contained predominantly low-density fat attenuation. The tumors were resected due to concern for malignancy and mass symptoms. Pathologic examination identified both retroperitoneal masses as myelolipomas. The left tumor was 34×20×13 cm and weighed 4.7 kg and the right tumor was 20 cm in the largest dimension. Adrenal tissue was present in the specimen. The patient reported long-term compliance with glucocorticoid treatment. However, no biochemical monitoring of ACTH levels had occurred. Therefore, it is unclear if ACTH excess contributed to the development of these large tumors in this patient. It was presumed that both adrenal glands were inadvertently removed during surgery and the patient was treated with physiologic replacement doses of hydrocortisone and fludrocortisone postoperatively. In this case, the bilateral adrenalectomy was inadvertent. However, adrenalectomy can be considered as a treatment option in patients with classical CAH under certain circumstances to avoid complications of glucocorticoid excess. Learning points Myelolipomas should be considered in the differential diagnosis of adrenal or retroperitoneal masses in patients with CAH. On CT imaging, myelolipomas are seen as heterogeneous masses with low-density mature fat interspersed with more dense myeloid tissue. Myelolipomas are usually unilateral and measure <4 cm; however, very large and bilateral tumors have been reported. Treatment of CAH typically involves using supraphysiologic doses of glucocorticoid to suppress adrenal hyperandrogenism. Bilateral adrenalectomy is an alternative treatment option in patients with CAH. There is an association between ACTH excess and increased incidence of adrenal myelolipoma but the direct causal link remains to be established.

scholarly journals Giant bilateral adrenal lipoma in a patient with congenital adrenal hyperplasia

2021 ◽  
Vol 2021 ◽  
Author(s):  
Tina Kienitz ◽  
Jörg Schwander ◽  
Ulrich Bogner ◽  
Michael Schwabe ◽  
Thomas Steinmüller ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Abdominal Mass ◽  
Clinical Signs ◽  
Adrenal Tumors ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Endocrine Society ◽  
Adrenal Imaging ◽  
Open Laparotomy ◽  
The Right

Summary Apart from adrenal myelolipomas, adrenal lipomatous tumors are rare and only seldom described in the literature. We present the case of a 50-year-old man, with a classical form of congenital adrenal hyperplasia (CAH), which was well treated with prednisolone and fludrocortisone. The patient presented with pollakisuria and shortness of breath while bending over. On MRI, fat-equivalent masses were found in the abdomen (14 × 19 × 11 cm on the right side and 10 × 11 × 6 cm on the left side). The right adrenal mass was resected during open laparotomy and the pathohistological examination revealed the diagnosis of an adrenal lipoma. Symptoms were subdued totally postoperatively. This is the first report of a bilateral adrenal lipoma in a patient with CAH that we are aware of. Learning points Macronodular hyperplasia is common in patients with congenital adrenal hyperplasia (CAH). Solitary adrenal tumors appear in approximately 10% of adult CAH patients and are often benign myelolipomas. The Endocrine Society Clinical Practice Guideline does not recommend routine adrenal imaging in adult CAH patients. Adrenal imaging should be performed in CAH patients with clinical signs for an adrenal or abdominal mass. Adrenal lipoma is rare and histopathological examinations should rule out a differentiated liposarcoma.

Congenital adrenal hyperplasia in children – a survey on the current practice in the UK

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Usha Niranjan ◽  
Anuja Natarajan
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Online Survey ◽  
Current Practice ◽  
Normal Growth ◽  
British Society ◽  
Adrenal Crisis ◽  
Optimal Management ◽  
Adrenal Hyperplasia ◽  
Endocrine Society ◽  
The Uk

AbstractCongenital adrenal hyperplasia (CAH) in children varies in presentation and progression with several challenges in optimal management. Effective treatment is to achieve normal growth and development while avoiding adrenal crisis and hyperandrogenisation.Our aim was to ascertain the current practice in the UK on CAH management in children in comparison with the recommendations made by the Endocrine Society.An online survey was emailed to the British Society of Paediatric Endocrinology (BSPED) members requesting a response from each centre regarding CAH management.The survey was completed by 35 out of 92 centres (38% response rate). Tertiary centres constituted 22/35, while 8/35 were district general hospitals providing tertiary services. Treatment varied among centres with 25/35 using 10–15 mg/mOur survey highlights the diversity in managing children with CAH in the UK as compared with the recommendations of the Endocrine Society. It also demonstrates inconsistent involvement of essential specialist services, which are essential for optimal management of this condition.

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