Bilateral Adrenal Myelolipomas Research Articles

Bilateral giant adrenal myelolipoma associated with congenital adrenal hyperplasia

Adrenal myelolipomas are rare benign tumors, often non-functioning, located in the adrenal cortex, consisting mainly of mature adipose tissue and hematopoietic tissue. Although uncommon, the number of reported cases has increased due to the greater use of diagnostic imaging techniques. This tumor is usually unilateral and found as an adrenal incidentaloma, although there is a predominance of bilaterality in patients with congenital adrenal hyperplasia (CAH). In this study, we report the case of a 33-year-old male patient with CAH due to 21-hydroxylase deficiency, in non-regular use of the control medication, with bilateral giant adrenal myelolipoma and subsequent evolution of bilateral testicular adrenal rest tumors. He underwent bilateral adrenalectomy by video laparoscopy. The anatomopathological analysis, which confirmed myelolipomas’ diagnosis, revealed the right adrenal with 430 g and 12.5 x 9.3 cm and the left with 257 g and 11.5 x 10.4 cm. This tumor may be accompanied by adrenocortical adenoma and carcinoma, ganglioneuroma, pheochromocytoma, Addison’s disease, Cushing’s syndrome, or CAH.Among the hypotheses of its pathogenesis, we highlight an association between the development of adrenal myelolipoma and chronic hormonal stimulation by the adrenocorticotrophic hormone (ACTH), especially in CAH. The non-regular treatment of CAH with glucocorticoids may have contributed to the chronic and elevated secretion of ACTH and, consequently, to the development of bilateral giant adrenal myelolipoma.

SAT326 Massive Adrenomyelolipomas Due To Longstanding CAH

Abstract Disclosure: Q. Aziz: None. A. Champion: None. Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by deficiency in adrenal corticosteroid biosynthesis. 21 Hydroxylase Deficiency is common in 90-95% of CAH cases and have a defect in converting 17 OH Progesterone to 11 deoxycortisol. Therefore, they have an increase in ACTH secretion due to the decrease negative feedback drive along with excess adrenal androgens. Adrenal myelolipoma are common in patients with CAH and the tumors are benign and lipomatous. Clinical Case: Patient is a 47 year old female with past medical history of CAH presents to the clinic for evaluation of generalized fatigue and abdominal pain. She was diagnosed with CAH- 21 hydroxylase deficiency at birth and required vaginal reconstruction surgery. She was on hydrocortisone and fludrocortisone until age 18, but thereafter stopped taking medications or seeing physicians for nearly 30 years. CT abdomen/pelvis showed large bilateral adrenal myelolipomas, right adrenal gland measuring 23.2 cm and left adrenal gland measuring 20 cm. MRI confirmed enlarged adrenal glands. Initial labs included ACTH 299, 17-OH Progesterone >2000, 11 deoxycorticosterone 23.6, total testosterone 160, free testosterone 30.3, DHEA-S 192, Cortisol 2.8. She was started on fludrocortisone 50 mcg and Hydrocortisone 10 mg in the morning and 5 mg in the evening and was referred to an endocrine surgeon out of state, but surgery was not offered due to concerns of medication nonadherence. She returned to clinic 6 months after presentation, she admitted to missing multiple doses of her hydrocortisone. Repeat CT Abdomen and Pelvis showed severe compression of the IVC and right lobe of the liver along with mild compression of the kidneys and pancreas. To improve adherence, she was switched to prednisone, and eventually dexamethasone 0.75mg and fludrocortisone 100mcg. She complains of fatigue but improved abdominal pain. After a period of good adherence with medication administration, she was referred to a local surgical oncologist who agreed to do bilateral adrenalectomy due to mass effect. Conclusion: CAH is a challenging chronic disease with variable penetrance in phenotype, ranging from mild hirsutism to frank adrenal insufficiency. Massive adrenomyelolipomas are thought to be ACTH driven, especially seen in undertreated and longstanding CAH. Without the 21 hydroxylase enzyme to convert 17 OH Progesterone to 11 deoxycortisol, levels of ACTH rise. While these myelolipomas are benign and can generally be monitored, surgery should be considered if the size impairs function of surrounding organs. Bilateral adrenalectomy can also be considered in patients with CAH for refractory hypertension, hyperandrogenism and virilization, Cushing syndrome, infertility, or mass effect. Presentation: Saturday, June 17, 2023

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency.

21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations. A total of 15 individuals from three unrelated families were included in this study. Target Capture-Based Deep Sequencing and Restriction Fragment Length Polymorphism was conducted on peripheral blood DNA of the three probands to identify potential mutations/deletions in CYP21A2; Sanger sequencing was conducted with the DNA from the family members of the probands. Dramatically different phenotypes were seen in the three probands of CAH with different compound heterozygous mutations in CYP21A2. Proband 1 manifested simple virilizing with mutations of 30-kb deletion/c.[188A>T;518T>A], the latter is a novel double mutants classified as SV associated mutation. Although both probands carry the same compound mutations [293-13C>G]:[518T>A], gonadal dysfunction and giant bilateral adrenal myelolipoma were diagnosed for proband 2 and proband 3, respectively. Both gender and mutations contribute to the phenotypes, and patients with the same compound mutations and gender could present with different phenotypes. Genetic analysis could help the etiologic diagnosis, especially for atypical 21OHD patients.

A case of bilateral adrenal myelolipoma in congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: A rare and uncommon finding

Abstract Congenital adrenal hyperplasia (CAH) is a common endocrine disorder that can lead to poor quality of life and the development of adrenal and extra-adrenal mass lesions when poorly controlled. Adrenal myelolipomas are rare, benign neoplasms that have been observed in long-standing, uncontrolled CAH cases. In this report, we describe a 31-year-old patient with ambiguous genitalia, hypokalemia, and normotension. The hormonal profile showed elevated 11-deoxy cortisol and 17-hydroxy progesterone. The clinical and biochemical profile was suggestive of CAH due to 11-beta-hydroxylase deficiency. On evaluation for pain abdomen, bilateral large adrenal myelolipomas were found for which surgery was done. Presently the index case is on steroid replacement therapy. This case emphasizes the importance of timely diagnosis adherence to treatment and appropriate follow-up of CAH cases in order to prevent the development of adrenal myelolipomas.

PSAT019 A Rare Case of Massive Bilateral Adrenal Myelolipomas in a Patient with Congenital Adrenal Hyperplasia

Abstract Background Myelolipomas are rare, benign tumors of the adrenal gland that consist of adipose and hematopoietic tissue. Most present unilaterally and rarely exceed 4 cm, but bilateral and large myelolipomas have been reported. The development of these neoplasms has been associated with congenital adrenal hyperplasia (CAH) (1). Clinical Case A 44-year-old woman with a history of simple virilizing CAH follows in endocrine clinic. She was diagnosed with CAH at birth and underwent vaginoplasty procedures at age 8 and 16. She has been on glucocorticoid therapy with hydrocortisone or prednisone throughout her life, but has had long gaps in treatment (sometimes up to a year) and reports often skipping doses due to concerns regarding facial swelling. She has not had a menstrual cycle for many years and reports shaving her facial hair daily. Her ACTH has been as elevated as 830 pg/mL, 17-alpha-OH-P has been as elevated as 17740 ng/dL, and testosterone as elevated as 401 ng/dL. She now presents for evaluation of an umbilical hernia. She did not have any abdominal or flank discomfort. CT abdomen and pelvis with contrast was obtained and showed bilateral, massive (approximately 25 cm and 18 cm in the largest dimensions on each side) suprarenal masses thought to most likely represent adrenal myelolipomas. She was referred to endocrine surgery and is undergoing discussions regarding possible adrenalectomy. Since the discovery of these adrenal masses, she has been consistently taking prednisone 5 mg daily. Conclusion This case illustrates the potential role of poorly-controlled CAH in the development of massive adrenal myelolipomas. Many hypothesize chronic ACTH stimulation can cause metaplasia of adrenocortical cells and lead to the development of myelolipomas. Review of the medical literature reveals no clear consensus on the management of these rare neoplasms (2). References (1) Al-Bahri S, Tariq A, Lowentritt B, Nasrallah DV. Giant bilateral adrenal myelolipoma with congenital adrenal hyperplasia. Case Rep Surg. 2014;2014: 728198. doi: 10.1155/2014/728198. Epub 2014 Jul 16. PMID: 25140269; PMCID: PMC4124659. (2) German-Mena E, Zibari GB, Levine SN. Adrenal myelolipomas in patients with congenital adrenal hyperplasia: review of the literature and a case report. Endocr Pract. 2011 May-Jun;17(3): 441-7. doi: 10.4158/EP10340.RA. PMID: 21324823. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.

Abstract #1185183: Large Bilateral Adrenal Myelolipoma in a patient with Congenital Adrenal Hyperplasia

Adrenal myelolipoma is a benign and biochemically non-functioning tumor, containing adrenal, adipose, and myeloid tissue. There are some reports of its association with endocrine disorders such as Congenital Adrenal Hyperplasia and Cushing's disease. They are usually smaller than 7 cm but rarely they can grow into giant size and cause compressive symptoms. Here, we present a case with development of giant myelolipoma in a patient with history of congenital adrenal hyperplasia.

Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences.

ObjectiveTo report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.MethodsA 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas).ResultsFurther history revealed a known diagnosis of CAH. The patient had been treated with glucocorticoid and mineralocorticoid replacement in childhood but stopped taking these medications against medical advice. During his hospital admission, he was noted to have elevated 17-hydroxyprogesterone, low cortisol with elevated ACTH levels, and male-level testosterone measurements. CT of the abdomen/pelvis revealed a 23 cm mass in the left renal fossa and a 2.5 cm mass in the right renal fossa consistent with bilateral adrenal myelolipomas. The patient attended follow-up in clinic, but declined any further hormonal treatment as he identified as male and felt further treatment was unnecessary.ConclusionThis case demonstrated the unique long-term effects of untreated classic CAH due to 21OH deficiency, including bilateral adrenal myelolipoma, adrenal compensation to the point of producing male-level androgens, and possibly PEs. Treatment with hydrocortisone was recommended to suppress ACTH and it was planned that the patient would eventually start on testosterone (although this would have been complicated by his bilateral PEs). Potential aetiologies for the PEs included vascular compression of the renal artery (which could explain the elevated EPO/erythrocytosis contributing to hypercoagulability) or the renal vein by the adrenal mass.LEARNING POINTSGender dysphoria in patients with congenital adrenal hyperplasia (CAH) is not uncommon.Adrenal enlargement can allow untreated CAH patients to compensate.Pulmonary embolisms can be a consequence of treating as well as untreated CAH.

Large Bilateral Adrenal Myelolipomas in the Setting of Congenital Adrenal Hyperplasia

Adrenal myelolipomas (AMLs) are rare benign adrenal tumors containing adipose and hematopoietic tissue, with a reported incidence of 0.08 to 0.4% on autopsy. AMLs are the second most common primary adrenal incidentaloma. Congenital adrenal hyperplasia (CAH) is associated with 10% of analyzed AML cases, half of which are bilateral in CAH patients.This is a 40-year old male with CAH diagnosed shortly after birth, due to 21-hydroxylase deficiency. He was doing well on a maintenance dose of hydrocortisone 20mg PO qAM and 10mg PO qPM and fludrocortisone 0.2mg PO daily until two years ago when he was incidentally found to have large bilateral AMLs while undergoing abdominal MRI and CT scans. These measured 6.6x3.6x7.7cm on the right (R) and 12.3x8.4x6.8cm on the left (L) at the time. He was asymptomatic, denying flank and abdominal pain. Follow up adrenal CT a year later revealed his AMLs increased in size to 8.7x4.2x6.6cm (R) and 13.9x6x8cm (L). Repeat CT another year later showed further rapid enlargement of his AMLs, measuring 11.1x6.1x7.9cm (R) and 17.1x7.8x10.8cm (L). He also exhibited a rising 17-hydroxyprogesterone level of 11,547ng/dL, despite an increased hydrocortisone dose (20mg BID). Although he remained asymptomatic, due to the precipitous growth of the masses and his increasing steroid requirement, a surgical approach was recommended. Open bilateral adrenalectomy was performed by an experienced endocrine surgeon and patient was discharged from the hospital with maintenance hydrocortisone and fludrocortisone therapy as well as strict sick day instructions.AMLs were first described in 1905 by Gierke. In the past, they were often discovered on autopsies, but more recently, due to the increase in imaging, have been incidentally diagnosed on more patients. Mostly, they occur unilaterally and are small (<4 cm) in size. Individuals with hormonal dysfunction such as those with Cushing’s Syndrome, Conn’s syndrome and CAH, particularly with difficult-to-control corticotropin levels, may be at a greater risk of developing AMLs concurrently, however this phenomenon is still not well understood. Small asymptomatic AMLs can be monitored with serial imaging over time. Spontaneous rupture of AMLs was found in 4.5% of cases, mostly occurring in tumors > 10cm, some resulting in retroperitoneal hemorrhage or even hemorrhagic shock. Although there is no clear consensus on surgery, development of symptoms or significant growth (to >10cm), as in our case, is a reason to pursue surgical evaluation especially in a young, otherwise relatively healthy adult.

Late diagnosis of classic congenital adrenal hyperplasia: long-term consequences during adulthood.

SummaryCongenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders related to enzyme deficiencies in the adrenal steroidogenesis pathway leading to impaired corticosteroid biosynthesis. Depending on the extension of enzyme defect, there may be variable severities of CAH – classic and non-classic. We report the case of a 37-year-old male patient with a previously unknown diagnosis of classic CAH referred to Endocrinology evaluation due to class III obesity and insulin resistance. A high diagnostic suspicion was raised at the first Endocrinology consultation after careful past medical history analysis especially related to the presence of bilateral adrenal myelolipomas and primary infertility. A genetic test confirmed the presence of a variant of the CYP21A2 in homozygous with an enzymatic activity of 0–1%, corresponding to a classic and severe CAH form. Our case represents an unusually late definitive diagnose of classic CAH since the definition was established only during adulthood in the fourth decade of life. The missing diagnosis of classic 21 hydroxylase deficiency during infancy led to important morbidity, with a high impact on patients’ quality of life. Learning pointsCongenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive enzyme disorders responsible for an impaired cortical adrenal hormonal synthesis.CAH may be divided into two major forms: classic and non-classic CAH. If untreated, CAH may be fatal or may be responsible for important multi-organ long-term consequences that can be undervalued during adulthood. Adrenal myelolipomas are associated with chronic exposure to high ACTH levels and continuous androgen hyperstimulation typically found in undertreated CAH patients.Testicular adrenal rest tumours (TART) and primary infertility can be the first manifestation of the disease during adulthood.

BILATERAL GIANT ADRENAL MYELOLIPOMA: A RARE CASE OCCURRENCE

Myelolipoma is a combined lesion involving mature adipose tissue and bone marrow elements. Adrenal gland is the commonest site of myelolipoma. Usually these lesions are asymptomatic, unilateral and small in size. Occasionally myelolipomas become enormous and symptomatic depending on the location. Here we describe a case of bilateral giant adrenal myelolipoma presenting with abdominal pain. The case was managed surgically without any post-operative complications.

Diagnosis and Management of a Large Adrenal Myelolipoma

AbstractAdrenal myelolipoma is a rare condition. Although benign in nature, these tumors can increase in size and cause a mass effect to nearby structures presenting as abdominal distension and pain. In 90% of cases, adrenal myelolipomas are unilateral. However, the real challenge in management is when bilateral adrenal myelolipoma is present. Herein, we present a case of a 51-year-old male Caucasian patient with bilateral adrenal myelolipoma. The patient had a large left adrenal myelolipoma (23 × 13 cm) and a small one on the right (4.4 × 4 cm). We opted for an open left adrenalectomy due to classical features on computed tomography scan and the mass effect of the tumor.

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

IntroductionPatients 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 CaseA 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.DiscussionGlucocorticoids 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.ConclusionThis 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.

SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia

INTRODUCTION Adrenal myelolipomas are rare, benign adrenal tumors composed of adipose and hematopoietic tissue. The first mass was identified by Gierke in 1905 and named by Oberling in 1929. Myelolipomas often coexist with CAH and other hormonal disorders although this relationship is still unclear. We present a rare case of giant bilateral myelolipomas in a patient with CAH. CASE REPORT A 28-year-old female with a history of CAH due to 21-hydroxylase deficiency diagnosed at birth presented to our endocrinology clinic after being lost to follow up for 4 years and a history of poor follow up for several years before that. She reported being on varying doses of hydrocortisone throughout her life with the most recent being 10mg TID with poor adherence. Over the past 4 years, the patient noticed increased hair growth on her face, abdomen, inner thighs and back, abdominal striae, and weight gain of 80-100lbs. She also reported a history of bilateral flank pain for the last several years, requiring several ER visits where she was told she had adrenal nodules based on scans that were done. A few months prior to her first visit to our clinic she developed increasing flank pain, which prompted a visit to a local ER. A CT of the abdomen revealed bilateral adrenal septated complex cystic masses measuring 19x12x20 cm on the left and 12x11x11 cm on the right. Initial biochemical workup was consistent with poorly managed CAH: ACTH 45.2 pg/mL (n 7.2 - 63.3), total testosterone 401 ng/dl (n 8-48), androstenedione 2085 ng/dl (n 41-262), 17-OH progesterone 18880 ng/dl, (n 15-290), DHEA-sulfate 423.5 ug/dl, (n 84.8-378), and estradiol 72.0 pg/dl, (n 12.5-498). Plasma renin activity was 13.904 ng/mL/hr (n 0.167-5.380 ng/mL/hr). Based on laboratory results hydrocortisone was decreased to 10mg BID and dexamethasone was added. Due to severe recurrent pain the patient underwent bilateral adrenalectomy. On pathology the bilateral masses were found to be myelolipomas with the left diameter measuring 22.3 cm and the right measuring 16.5 cm. Post-operatively her lab values showed significant improvement compared to her initial workup: ACTH 4.1 pg/mL, total testosterone 6.7 ng/dl, androstenedione 73 ng/dl, 17-OH progesterone 29 ng/dl, DHEA sulfate 7.2 ug/dl, and estradiol 228.3 pg/dl. Plasma renin was also within normal range at 1.776 ng/mL/hr. On follow up, the patient had recovered well and reported improvement in her flank pain. CONCLUSION This is a rare case of giant bilateral adrenal myelolipomas. Despite these tumors being benign and often asymptomatic, they are clinically relevant due to their role in the differential diagnosis of an adrenal mass. The presence of megakaryocytes in a biopsy specimen of a fatty adrenal mass is pathognomonic for myelolipoma. Treatment is guided by the tumor size and patient presentation; masses >7 cm, hormonally active, or causing abdominal pain should be surgically removed as demonstrated in this case

Incidental diagnosis of Bilateral Adrenal Myelolipomas in a patient with Congential Adrenal Hyperplasia results in enhanced adherence to treatment, with limited evidence to guide management

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is one of the most prevalent, and potentially severe, genetic inborn errors of steroid synthesis directly affecting metabolism. Most patients are diagnosed and treated at an early age. There have been very limited reports of adults with CAH-associated adrenal myelolipomas. We aimed to analyze two families with CAH-associated giant adrenal myelolipomas caused by defects in CYP21A2 and CYP17A1 genes. A total of 14 individuals from two unrelated families were identified with either CYP21A2 or CYP17A1 mutations. Of note, five patients were found with adrenal myelolipomas. Total DNA isolated from the peripheral blood of the two probands was screened for potential mutations in the following susceptibility genes of CAH: CYP21A2, CYP11B1, CYP17A1, HSD17B3, HSD3B2, ARMC5, and STAR using target capture-based deep sequencing; and Sanger sequencing was conducted for the family members to detect the potential mutations. The following results were obtained. In family 1, molecular genetics sequencing revealed a compound heterozygous mutation (c.293-13C>G/c.518T>A, p.I173N) in CYP12A2 in the patient and his brother. In family 2, all three female patients with adrenal myelolipomas were found to have a compound heterozygous mutation (c.1118A>T, p.H373L/c.1459_1467del9, p.D487_F489del) in CYP17A1. To avoid giant CAH-associated adrenal myelolipomas in adults, it is important to identify CAH early so that appropriate treatment can be initiated to interrupt the chronic adrenal hyperstimulation resulting from increased ACTH. Genetic testing and counseling could be useful in CAH.

MANAGEMENT OF ENDOCRINE DISEASE: Differential diagnosis, investigation and therapy of bilateral adrenal incidentalomas.

The investigation and management of unilateral adrenal incidentalomas have been extensively considered in the last decades. While bilateral adrenal incidentalomas represent about 15% of adrenal incidentalomas (AIs), they have been less frequently discussed. The differential diagnosis of bilateral incidentalomas includes metastasis, primary bilateral macronodular adrenal hyperplasia and bilateral cortical adenomas. Less frequent etiologies are bilateral pheochromocytomas, congenital adrenal hyperplasia (CAH), Cushing's disease or ectopic ACTH secretion with secondary bilateral adrenal hyperplasia, primary malignancies, myelolipomas, infections or hemorrhage. The investigation of bilateral incidentalomas includes the same hormonal evaluation to exclude excess hormone secretion as recommended in unilateral AI, but diagnosis of CAH and adrenal insufficiency should also be excluded. This review is focused on the differential diagnosis, investigation and treatment of bilateral AIs.

BILATERAL ADRENAL MYELOLIPOMAS PRESENTING AS ACUTE ADRENAL INSUFFICIENCY IN AN ADULT WITH CONGENITAL ADRENAL HYPERPLASIA

Introduction Adrenal myelolipomas are relatively rare, benign tumors composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone (ACTH) stimulation. We present the case of bilateral adrenal myelolipomas in a patient with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilization. Case A 39-year-old Hispanic adult, who raised as a male, presented with nausea, vomiting, and hypotension. Phenotypically, he was a man of short stature. He was noted to have hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was significant for hyponatremia, hyperkalemia, a low cortisol and elevated ACTH, consistent with primary adrenal insufficiency. An abdominal computerized tomography showed 6×4.5×5 cm right and 2.3×1.4×2.5 cm left adrenal masses with radiological characteristic of myelolipomas. A magnetic resonance imaging of pelvis revealed a...

Clinical report of testicular hypoplasia combined with 21-hydroxylase deficiency

OBJECTIVE To investigate the correlation of 21-hydroxylase deficiency (21-OHD) with male testicular dysplasia. METHODS Clinical data of 8 infertile males with congenital adrenal hyperplasia due to 21-OHD was retrospectively analyzed. In addition, potential mutations of the CYP21A2 gene was detected. RESULTS All patients were referred because of azoospermia or severe oligospermia and had small testis with averaged testicular volume of 6.1 mL. Three patients had testicular adrenal rest tumors. Endocrinologic examinations revealed low levels of leutinizing hormone and follicular stimulating hormone, normal or elevated testosterone, elevated progesterone, elevated or normal adrenocoticotropic hormone, and low or normal cortisol. All patients had adrenal cortical hyperplasia, 5 with adrenal adenoma, 1 case associated with bilateral adrenal myelolipoma. All patients were given glucocorticoid replacement therapy for 3 to 6 months, which successfully improved the seminal status of 6 patient and resulted pregnancies in 5 couples. Seven pathogenic mutations of the CYP21A2 gene among the 8 patients. CONCLUSION 21-OHD can cause testicular hypoplasia and spermatogenic failure. Glucocorticoids and operations can obtain good result and improve spermatogenesis. Our results have shown a good genotype/phenotype correlation in these cases. All patients have carried the p.Ile172Asn mutation, which is associated with simple virilizing form.

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

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.

Rare case of bilateral massive adrenal myelolipoma in association with congenital adrenal hyperplasia

Rare case of bilateral massive adrenal myelolipoma in association with congenital adrenal hyperplasia