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.

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.

Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Christian Pina ◽  
Ahmed Khattab ◽  
Philip Katzman ◽  
Lauren Bruckner ◽  
Jeffrey Andolina ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ovarian Carcinoma ◽  
Left Ovary ◽  
Bilateral Adrenalectomy ◽  
Ca 125 ◽  
Adrenal Hyperplasia ◽  
Serous Adenocarcinoma ◽  
Adrenal Tissue ◽  
Ovarian Serous Adenocarcinoma ◽  
21 Hydroxylase Deficiency

AbstractA 14-year-old female with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency underwent bilateral adrenalectomy at 6 years of age as a result of poor hormonal control. Because the patient was adrenalectomized, extra adrenal androgen production was suspected. Imaging studies including pelvic ultrasound and pelvic magnetic resonance imaging (MRI) were obtained to evaluate for adrenal rest tumors of the ovaries. Abdominal MRI was obtained to evaluate for residual adrenal tissue. A cystic lesion arising from her right ovary suspicious for ovarian neoplasm was noted on pelvic MRI. Right salpingo-oophorectomy was performed and histopathological examination revealed ovarian serous adenocarcinoma, low-grade, and well-differentiated. Tumor marker CA-125 was elevated and additional ovarian cancer staging workup confirmed stage IIIC due to one lymph node positive for carcinoma. The patient then developed a large left ovarian cyst, which led to a complete total abdominal hysterectomy and removal of the left ovary and fallopian tube. Pathology confirmed ovarian serous adenocarcinoma with microscopic focus of carcinoma in the left ovary. After numerous complications, the patient responded well to chemotherapy, CA-125 levels fell and no evidence of carcinoma was observed on subsequent imaging. To our knowledge, this is the first reported case of an ovarian serous adenocarcinoma in a patient with CAH. Although rare, we propose that the ovaries were the origin of androgen production and not residual adrenal tissue. The relationship between CAH and ovarian carcinomas has yet to be established, but further evaluation is needed given the poor survival rate of high-grade serous ovarian carcinoma.

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.

scholarly journals Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit’s experience

2006 ◽  
Vol 154 (3) ◽  
pp. 405-408 ◽  
Author(s):  
Cara Megan Ogilvie ◽  
Gill Rumsby ◽  
Tom Kurzawinski ◽  
Gerard S Conway
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Symptom Control ◽  
Clinic Visit ◽  
Bilateral Adrenalectomy ◽  
Successful Outcome ◽  
Management Problem ◽  
Adrenal Hyperplasia ◽  
Retrospective Case ◽  
Case Note Review

Objective: The use of bilateral adrenalectomy in the management of congenital adrenal hyperplasia (CAH) is controversial. We set out to review the outcome of 5 cases of CAH who have undergone adrenalectomy in our unit. Design: A retrospective case note review and subject interview of the experience of adrenalectomy in the setting of a tertiary adult CAH clinic. Methods: Subjects who had undergone adrenalectomy were reviewed at a routine clinic visit with particular reference to clinical and biochemical outcomes after adrenalectomy. Results: Two subjects underwent surgery for the sole indication of desire for fertility with successful outcome and without subsequent adrenal crises. Three women suffered from the common clinical management problem of unsuppressible hyperandrogenism and worsening obesity. Whilst the outcome of improved appearance and weight loss was achieved in these subjects, all three experienced significant complications including pigmentation and acute episodes of adrenal insufficiency. Conclusion: We present a mean follow-up of 4.2 patient years and conclude that this procedure may be suitable for selected women with CAH. Outcomes for those pursuing fertility were positive; however, complications were noted in those women for whom the procedure was performed for symptom control. Accepting that the number of subjects is small, it is clear that more data are required before widely recommending this procedure.

scholarly journals Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia

2021 ◽  
Author(s):  
Deborah P Merke ◽  
Ashwini Mallappa ◽  
Wiebke Arlt ◽  
Aude Brac de la Perriere ◽  
Angelica Lindén Hirschberg ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Disease Control ◽  
Standard Therapy ◽  
Extension Study ◽  
Modified Release ◽  
Adrenal Hyperplasia ◽  
Androgen Excess ◽  
Phase 3 ◽  
Patient Reported ◽  
17 Hydroxyprogesterone

Abstract Context Standard glucocorticoid therapy in congenital adrenal hyperplasia (CAH) regularly fails to control androgen excess, causing glucocorticoid overexposure and poor health outcomes. Objective We investigated whether modified-release hydrocortisone (MR-HC), which mimics physiologic cortisol secretion, could improve disease control. Methods A 6-month, randomized, phase 3 study was conducted of MR-HC vs standard glucocorticoid, followed by a single-arm MR-HC extension study. Primary outcomes were change in 24-hour SD score (SDS) of androgen precursor 17-hydroxyprogesterone (17OHP) for phase 3, and efficacy, safety and tolerability of MR-HC for the extension study. Results The phase 3 study recruited 122 adult CAH patients. Although the study failed its primary outcome at 6 months, there was evidence of better biochemical control on MR-HC, with lower 17OHP SDS at 4 (P = .007) and 12 (P = .019) weeks, and between 07:00h to 15:00h (P = .044) at 6 months. The percentage of patients with controlled 09:00h serum 17OHP (&lt; 1200 ng/dL) was 52% at baseline, at 6 months 91% for MR-HC and 71% for standard therapy (P = .002), and 80% for MR-HC at 18 months’ extension. The median daily hydrocortisone dose was 25 mg at baseline, at 6 months 31 mg for standard therapy, and 30 mg for MR-HC, and after 18 months 20 mg MR-HC. Three adrenal crises occurred in phase 3, none on MR-HC and 4 in the extension study. MR-HC resulted in patient-reported benefit including menses restoration in 8 patients (1 on standard therapy), and 3 patient and 4 partner pregnancies (none on standard therapy). Conclusion MR-HC improved biochemical disease control in adults with reduction in steroid dose over time and patient-reported benefit.

CLINICAL OBSERVATIONS ON A NEW PROGESTATIONAL AGENT, »ALLYLESTRENOL«

1961 ◽  
Vol 38 (3) ◽  
pp. 419-426 ◽  
Author(s):  
Cetin K. Aydar ◽  
Robert B. Greenblatt
Keyword(s):  
Side Effects ◽  
Congenital Adrenal Hyperplasia ◽  
Methyl Ether ◽  
Adrenal Function ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Total Dosage ◽  
Sexual Precocity ◽  
Clinical Observations ◽  
Thermogenic Response

ABSTRACT 1. A new steroid, 17α-allyl-17β-hydroxy-estr-4-ene (allylestrenol) is an orally effective progestational compound. 2. Forty-three female patients received 71 courses of allylestrenol. Withdrawal bleeding occurred in 59 instances, with as low a total dosage as 50 to 75 mg over a period of five days. 3. In five of the eleven patients a thermogenic response was noted. 4. Thirty to forty milligrams of allylestrenol with 0.12 to 0.2 mg of ethinyl oestradiol-3-methyl ether successfully delayed menses when administered for 20 days starting 6 to 7 days after ovulation. 5. Allylestrenol with an oestrogen induced progestational changes in a castrated female. 6. Allylestrenol did not suppress adrenal function in 2 patients with congenital adrenal hyperplasia but did appear to have some anti-oestrogenic effects in the treatment of two children with sexual precocity. 7. Allylestrenol is a pure and safe progestational agent without apparent androgenic, oestrogenic, or other side effects.

scholarly journals Bilateral Adrenalectomy in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

2018 ◽  
Vol 103 (5) ◽  
pp. 1767-1778 ◽  
Author(s):  
Diana MacKay ◽  
Anna Nordenström ◽  
Henrik Falhammar
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cushing Syndrome ◽  
Case Reports ◽  
Therapeutic Option ◽  
Meta Analysis ◽  
Case Series ◽  
Adverse Outcomes ◽  
Bilateral Adrenalectomy ◽  
Adrenal Hyperplasia

Abstract Context Management of congenital adrenal hyperplasia (CAH) involves suppression of the hypothalamic–pituitary–adrenal axis using supraphysiological doses of exogenous glucocorticoids. This can pose a challenge, with Cushing syndrome a frequent complication of adequate suppression. Bilateral adrenalectomy, with subsequent replacement of glucocorticoids and mineralocorticoids at physiological doses, has been proposed as an alternative therapeutic strategy. Objective To review the outcomes after bilateral adrenalectomy for CAH. Data Sources A systematic search of PubMed/MEDLINE and Web of Science, identifying relevant reports published up to 10 January 2018. Study Selection Case reports or case series were included if they reported individual patient data from patients with CAH who had undergone bilateral adrenalectomy. Data Extraction Information regarding the following was extracted: first author, country, sex, age at adrenalectomy, year of adrenalectomy, diagnosis, molecular abnormality, pre- and postoperative biochemistry, pre- and postoperative medications, pre- and postoperative body mass index, indication for adrenalectomy, surgical technique, gross and microscopic adrenal characteristics, follow-up duration, and short- and long-term postoperative outcomes. Data Synthesis We identified 48 cases of bilateral adrenalectomy for CAH, with patients aged from 4 months to 56 years at surgery. The most common indication for surgery was the inability to control hyperandrogenism/virilization and/or Cushing syndrome (n = 30; 62%). Most patients (n = 34; 71%) reported symptomatic improvement postoperatively, with some cases of short-term (n = 5; 10%) and long-term (n = 13; 27%) adverse outcomes. Conclusions Bilateral adrenalectomy for CAH appears to be a reasonable therapeutic option for carefully selected patients who have had unsatisfactory outcomes with conventional medical management.

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