Adrenal Myelolipomas in Patients with Congenital Adrenal Hyperplasia: Review of the Literature and A Case Report

ObjectiveTo review the association between congenital adrenal hyperplasia (CAH) and adrenal myelolipomas and report a case of bilateral, giant adrenal myelolipomas in a patient with untreated CAH due to 21-hydroxylase deficiency.MethodsWe describe the patient’s clinical presentation, imaging findings, and laboratory test results and review the relevant English-language literature concerning patients with both CAH and myelolipomas.ResultsA 45-year-old man with untreated CAH due to 21-hydroxylase deficiency presented with increasing abdominal girth and abdominal pain. Computed tomography of the abdomen demonstrated very low-density adrenal masses (22 × 11 cm on the left side and 6 × 5.5-cm on the right side) consistent with adrenal myelolipomas. The left adrenal myelolipoma was resected (24.4 × 19.0 × 9.5 cm; 2557 g). The mass was composed of mature adipose tissue with areas of hematopoietic cells of myeloid, erythroid, and megakaryocytic cell lines. Islands of adrenal cortical cells were scattered between the adipose and hematopoietic tissue. Including the present case, we identified 31 patients with both CAH and myelolipomas who have been described in the English-language literature. The details of these cases were reviewed.ConclusionsPersons with CAH may be at increased risk of developing adrenal myelolipomas, particularly if their CAH is poorly controlled. How and whether chronic exposure of the adrenal glands to high corticotropin levels increases the risk of developing myelolipomas remains a matter of speculation. (Endocr Pract. 2011;17:441-447)     

The Classic and Nonclassic Concenital Adrenal Hyperplasias

Objective: The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases.Methods: Case presentation, discussion of literature, table, and bullet point conclusions.Results: The congenital adrenal hyperplasia (CAH) syndromes are autosomal recessive defects in cortisol biosynthesis. The phenotype of each CAH patient depends on the defective enzyme and the severity of the defect. Clinical manifestations derive from both failure to synthesize hormones distal to the enzymatic block, as well as consequences from cortisol precursor accumulation proximal to the block, often with diversion to other biologically active steroids. The most common form of CAH is 21-hydroxylase deficiency, which occurs in the classic form in 1 in 16,000 newborns and in a milder or nonclassic form in at least 1 in 1,000 people.Conclusion: This article reviews the various forms of CAH and pitfalls in the diagnosis and treatment of these conditions.Abbreviations: 11OHD = 11-hydroxylase deficiency 17OHD = 17-hydroxylase deficiency 17OHP = 17-hydroxyprogesterone 21OHD = 21-hydroxylase deficiency 3βHSD = 3β-hydroxysteroid dehydrogenase CAH = congenital adrenal hyperplasia CST = cosyntropin stimulation test CYP17A1 = cytochrome P450 17A1 (steroid 17-hydroxylase/17,20-lyase) DHEAS = dehydroepiandrosterone sulfate DSD = disorder of sex development LCAH = lipoid congenital adrenal hyperplasia NBS = newborn screening NCAH = nonclassic CAH PCOS = polycystic ovary syndrome PORD = P450-oxidoreductase deficiency     

Corticotropin-Independent Cushing Syndrome in a Child With an Ovarian Tumor Misdiagnosed as Nonclassic Congenital Adrenal Hyperplasia

ObjectiveTo describe a patient with corticotropinindependent Cushing syndrome previously diagnosed and treated as congenital adrenal hyperplasia (CAH).MethodsWe describe the initial manifestations, clinical investigations, and postoperative follow-up of the patient and review similar cases in the literature.ResultsA 5 and 9/12-year-old girl who was initially diagnosed and treated as having CAH and was noncompliant with glucocorticoid therapy presented with weight gain, hypertension, and a mass in the lower abdomen. On physical examination, she was a cushingoid-appearing girl with proximal muscle weakness and notable facial acne. Laboratory findings included elevated serum testosterone, 17-hydroxyprogesterone, dehydroepiandrosterone sulfate, androstenedione, estradiol, and cortisol, as well as elevated urinary cortisol and cortisone. Serum corticotropin was undetectable. She had normal serum electrolytes and plasma renin activity. Computed tomography scan of the abdomen and pelvis showed a cystic mass with a focal enhancing solid component arising from the right ovary, which was subsequently determined to be a steroid cell tumor not otherwise specified.ConclusionAlthough ovarian steroid cell tumors typically secrete gonadal steroids, the rare steroid cell tumors not otherwise specified can secrete both glucocorticoids and gonadal steroids and are an unusual cause of Cushing syndrome. (Endocr Pract. 2008;14:875-879)     

Metformin-Responsive Classic Salt-Losing Congenita L Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: a Case Report

ObjectiveTo study the effect of adding metformin to standard steroid replacement therapy in a patient with classic salt-losing congenital adrenal hyperplasia due to 21- hydroxylase deficiency with suboptimal biochemical and clinical control.MethodsWe present the clinical and laboratory findings before and after the addition of metformin to the therapeutic regimen of the study patient.ResultsA 17-year-old girl had been diagnosed as a neonate with classic salt-losing congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CYP21A2 deficiency). She was treated with hydrocortisone, 20 mg in the morning and 10 mg at bedtime, and fludrocortisone, 50 mcg daily. While on steroid replacement, she maintained normal serum electrolytes, glucose, blood pressure, and external genitalia, but she continued to express clinical features of obesity, hirsutism, amenorrhea, and acanthosis nigricans. Elevated laboratory measurements included the following: fasting 17-hydroxyprogesterone, 3410 ng/dL; total testosterone, 326 ng/dL; and androstenedione, 390 ng/dL. She was initiated on metformin, 500 mg twice daily after meals. After 3 months, the patient lost 2 kg, amenorrhea resolved, 17-hydroxyprogesterone decreased to 1539 ng/dL, total testosterone decreased to 163 ng/dL, and androstenedione levels remained unchanged.ConclusionsMetformin, an agent known to reduce insulin resistance, further suppressed the 17-hydroxyprogesterone concentration in a patient with classic congenital adrenal hyperplasia on steroid replacement therapy. Metformin may improve clinical and biochemical outcomes in classic congenital adrenal hyperplasia without the risk of iatrogenic Cushing syndrome. (Endocr Pract. 2008;14:889-891)     

Prevalence and Characteristics of Adrenal Tumors and Myelolipomas in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Objective: The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Our objective was to estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population.Methods: We carried out systematic searches in Medline Ovid and Embase for articles published until January, 2020. Studies with confirmed CAH, biochemically and/or genetically, were included. The two authors independently extracted data from each study.Results: Six cohort studies were included in the prevalence calculation. In addition, 32 case reports on adrenal myelolipomas and CAH were included. The prevalence of adrenal tumors in CAH was 29.3%. When only studies with genetically verified cytochrome P450, Family 21, subfamily A, polypeptide 2 gene (CYP21A2) mutations were included the prevalence was 23.6%. The prevalence of myelolipoma in CAH was 7.4% (verified CYP21A2 mutations 8.6%). The proportion of myelolipoma in the adrenal tumors was 25.4% (genetically verified 36.6%). The median (range) age at tumor diagnosis was 36.0 (12 to 60) years and there were more tumors in males than in females (37.9% versus 22.1%; P<.05). In patients with myelolipomas, 93.5% had an undiagnosed or poorly managed CAH.Conclusion: Patients with CAH had a high prevalence of adrenal tumors, particularly myelolipomas. Those with myelolipomas had a high frequency of late-diagnosed or poorly controlled CAH. Adrenal imaging may be considered in patients with CAH, especially if abdominal pain is present.     

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Presenting as Adrenal Incidentaloma: A Systematic Review and Meta-Analysis

Objective: Adrenal incidentalomas (AIs) may be due to congenital adrenal hyperplasia (CAH) due to homozygous CYP21A2 mutations, or perhaps from heterozygous carrier status. It is unclear if genetic or biochemical testing of CYP21A2 status in AI is justified, despite its potential for avoiding adrenal crises in those referred for adrenalectomy.Methods: We systematically searched PubMed/MEDLINE for articles published up to October 19, 2015 containing all terms associated with adrenal tumors and CAH. Meta-analyses were used to estimate the CAH or carrier prevalence in AI and assess clinical factors that may guide testing.Results: Thirty-six publications were included. Of AI patients biochemically screened for CAH, 58/990 (5.9%) were diagnosed with CAH. Genetic screening of all AIs revealed only 2/252 (0.8%) with clear CAH. The carrier prevalence was 10.2% (36/352). The rate of 0.8% (8/1,000) genetically confirmed CAH is higher than the 1/15,000 affected by classic CAH or 1/1,000 by nonclassic CAH in the Caucasian population. The rate of heterozygous CYP21A2 mutation frequency is similar to those in reported in population studies. Levels of both basal and stimulated 17-hydroxyprogesterone positively correlated with AI diameter. Although bilateral incidentalomata were frequent in CAH, their presence did not predict CYP21A2 status.Conclusion: The presence of an AI does not increase the probability of detection of CAH or CYP21A2 carrier status to the extent routine genetic testing is justified. Screening with 17-hydroxyprogesterone levels appears to lack specificity in the setting of an AI. CYP21A2 mutation analysis is probably the only reliable method for CAH diagnosis in AIs.Abbreviations:ACC = adrenocortical carcinomaACTH = adrenocorticotropic hormoneAI = adrenal incidentalomaCAH = congenital adrenal hyperplasiaNCAH = nonclassic congenital adrenal hyperplasia17OHP = 17-hydroxyprogesteroneSV = simple virilizing     

Energy Expenditure in 21-Hydroxylase Congenital Adrenal Hyperplasia Patients and Comparison with Predictive Equations

Objective: To characterize resting energy expenditure (REE) in patients with classic 21-hydroxylase congenital adrenal hyperplasia (21-OH CAH) using indirect calorimetry and compare it to the most commonly used REE predictive equations.Methods: This case-control study comprised 29 post-pubertal 21-OH CAH patients regularly followed at the University of Campinas. Elevated serum 17-hydroxyprogesterone and CYP21 gene molecular analysis confirmed the diagnosis. A healthy control group paired by age, gender, and body mass index was examined. Dual-energy X-ray absorptiometry (DEXA) measured body compositions. A bioimpedance analyzer determined fat-free mass, and indirect calorimetry using a metabolic cart measured REE.Results: Unlike our initial hypothesis, REE was similar between the groups (18.7 ± 3.1 kcal/kg/day in CAH vs. 20.3 ± 3.5 kcal/kg/day in controls; P = .728). No predictive equations reached the stipulated accuracy criteria, thus lacking validity in REE assessment in adults with the characteristics of the group studied. DEXA analysis revealed higher body fat and diminished nonbone lean mass in 21-OH CAH. Anthropometric and bioelectrical impedance parameters were not significantly different.Conclusion: Classic 21-OH CAH is generally followed in reference centers, which may facilitate indirect calorimetry use for REE measurement. Alternatively, considering our REE findings in adult 21-OH CAH patients, nutrition management based on 25 kcal/body weight/day (measured REE × activity factor 1.2 to 1.3) may be reasonable for current body weight maintenance in these patients.Abbreviations: 17-OHP = 17-hydroxyprogesterone; 21-OH CAH = classic 21-hydroxylase deficiency congenital adrenal hyperplasia; BMI = body mass index; REE = resting energy expenditure; VO2 = volume of oxygen; VCO₂ = volume of carbon dioxide     

Hyperandrogenism Due to a Testosterone-Secreting Sertoli-Leydig Cell Tumor Associated With a Dehydroepiandrosterone Sulfate-Secreting Adrenal Adenoma in a Postmenopausal Woman: Case Presentation and Review of Literature

ObjectiveTo report a case of hyperandrogenism attributable to the presence of an adrenal adenoma secreting dehydroepiandrosterone sulfate (DHEA-S) and an ovarian Sertoli-Leydig cell tumor secreting testosterone in a postmenopausal woman.MethodsThe laboratory, radiologic, and pathologic findings in our case are described. In addition, the pertinent literature is reviewed.ResultsA 56-year-old woman presented with a history of gradual increase in facial and body hair, scalp hair loss, male pattern baldness, and deepening of her voice, beginning a few years after spontaneous menopause at age 49 years. She had hypertension, obesity, and type 2 diabetes mellitus. Laboratory tests showed elevated levels of total testosterone (348 ng/dL) and DHEA-S (2,058 μg/dL), and a left adrenal tumor (3 by 4 cm) was detected on abdominal computed tomographic scan. Laparoscopic left adrenalectomy was performed, and the pathologic diagnosis was adrenal adenoma. The DHEA-S returned to normal levels, but the serum testosterone concentration remained elevated. Transvaginal ultrasonography disclosed an ovarian tumor. Bilateral oophorectomy was performed, and an ovarian Sertoli-Leydig cell tumor was diagnosed. The hormonal and clinical picture normalized after this surgical intervention.ConclusionAfter extensive review of the literature, we believe that this is the first reported case of a coincidental DHEA-S-secreting adrenal adenoma and a testosterone-secreting ovarian Leydig cell tumor causing signs of virilization. (Endocr Pract. 2009;15:149-152)     

Testicular Adrenal Rest Tumors in Congential Adrenal Hyperlasia: A Case Report and Literature Overview

ObjectiveIn this paper, the etiology, differential diagnosis, and therapy of testicular adrenal rest tumors (TARTs) is presented based on a patient presentation and an overview of the most recent literature concerning this subject.MethodsRetrospective analysis of the clinical and biochemical data of an 18-year-old male patient diagnosed at the age of 2 weeks with the classic salt-wasting form of congenital adrenal hyperplasia that has been monitored in the pediatric and adolescent outpatient department since the age of 4 years.ResultsThe results of adrenal hormone tests (17-hydroxyprogesterone, 17-ketosteroids, and pregnanes) had been unsatisfactory, particularly over the previous 5 years. Scrotal ultrasound detected TARTs bilaterally. After increasing the dose of hydrocortisone and introducing dexamethasone, considerable regression of the tumors was noted.ConclusionLack of complete regression of the lesions is caused by fibrosis and is probably due to decreased sensitivity of adrenocorticotropic hormone and angiotensin II receptors in this tissue. (Endocr Pract. 2014;20:e219-e224)     

Genetic Forms of Adrenal Insufficiency

Objective: The American Association of Clinical Endocrinologists Adrenal Scientific Committee has developed a series of articles to update members on the genetics of adrenal diseases.Methods: Case presentation, discussion of literature, table, and bullet point conclusions.Results: The genetic mutations associated with several familial causes of adrenal insufficiency have now been identified. The most common ones that will be discussed here include Allgrove syndrome, adrenoleukodystrophy, adrenal hypoplasia congenita, autoimmune polyglandular syndrome type 1, congenital adrenal hyperplasia (CAH), lipoid CAH, and familial glucocorticoid deficiency. Although these diseases most commonly present in childhood, some rarely present in adulthood, and thus all endocrinologists must be familiar with these syndromes. Some patients only develop glucocorticoid deficiency, and others have both glucocorticoid and mineralocorticoid deficiency. These diseases may be associated with other conditions, especially neurologic disease, hypogonadism, or dermatologic problems. Diagnosis is suspected based on clinical presentation and laboratory findings. Gene testing may be necessary for confirmation of a diagnosis and/or screening of family members.Conclusion: This article briefly reviews the various familial adrenal insufficiency syndromes and the specific associated gene defects.Abbreviations: AAA = Allgrove syndrome (alachrima-achalasiaadrenal insufficiency) ACTH = adrenocorticotropic hormone AHC = adrenal hypoplasia congenita ALD = adrenoleukodystrophy CAH = congenital adrenal hyperplasia DAX1 = dosage-sensitive sex reversal, adrenal hypoplasia congenita, X-chromosome FGD = familial glucocorticoid deficiency LCAH = lipoid CAH MCM4 = mini-chromosome maintenancedeficient 4 SF1 = steroidogenic factor 1 VLCFA = very-long-chain fatty acid     

Bronchogenic Cyst Masquerading As an Adrenal Tumor: A Case of Mistaken Identity

ObjectiveTo describe a patient with a bronchogenic cyst that was erroneously diagnosed as an adrenal tumor and the surgical management strategy to address the operative challenges.MethodsWe summarize the clinical presentation, diagnostic workup, surgical management, and pathologic features of the study patient and review the pertinent literature.ResultsIn this report, we present the case of a 23-year-old woman who underwent retroperitoneoscopic exploration after imaging identified an enlarging left adrenal lesion. Preoperative biochemical testing confirmed that the mass was nonfunctional. No lesion was found after a thorough retroperitoneoscopic exploration under standard high insufflation pressure. Serendipitously, low-pressure inspection for hemostasis after failed exploration enabled discovery of an intradiaphragmatic mass that proved to be a bronchogenic cyst rather than an adrenal tumor. Not only was this a difficult operative dilemma, but it was also an unusual presentation for this tumor.ConclusionsDiscovery of a retroperitoneal or intradiaphragmatic bronchogenic cyst is a rare occurrence. The unusual location and tumor characteristics contributed to near surgical failure. The fortuitous surgical strategy of lowpressure inspection allowed visualization of the tumor for definitive resection. (Endocr Pract. 2012;18:e102-e105)     

Addison’S Disease in Evolution: An Illustrative Case and Literature Review

ObjectiveTo present a case of symptomatic autoimmune adrenal insufficiency with initially normal serum cortisol and to caution about limitations of the current diagnostic algorithm for adrenal insufficiency, which does not reflect the pathophysiology of early disease.MethodsWe describe the clinical presentation and relevant investigations of a patient ultimately found to have Addison’s disease, which is followed by a focused review of the literature.ResultsA 41-year-old Caucasian woman with autoimmune hypothyroidism, premature ovarian failure, and microscopic colitis presented with nausea, salt craving, increased skin pigmentation, and postural hypotension. Initial bloodwork revealed a normal morning cortisol of level of 19.2 μg/dL (normal, 7.2 to 25 μg/dL) but an adrenocorticotropic hormone (ACTH) level 10 times normal, at 513.6 pg/mL (normal, < 52.5 pg/mL). Her potassium was normal, but her aldosterone level was 4.12 ng/dL (normal, 12.3 to 62.5 ng/dL) and her renin activity was increased (23.0 mg/dL/hour; normal, < 6.0 mg/dL/hour). Six weeks after initial presentation, she was found to have anti-adrenal antibodies. It was not until 10 weeks after her initial symptomatic presentation that her morning cortisol level was found to be subnormal and a formal diagnosis of adrenal insufficiency was made.ConclusionThe present case and literature review reveal that common diagnostic approaches will miss patients with (possibly symptomatic) early adrenal insufficiency. We suggest that serum ACTH level testing or tests of mineralocorticoid function be included in the initial step of investigation for suspected primary adrenal insufficiency. (Endocr Pract. 2014;20:e176-e179)     

Virilizing Ovarian Leydig Cell Tumor in A Woman with Subclinical Cushing Syndrome

ObjectiveTo report the case of a patient with a virilizing ovarian Leydig cell tumor and subclinical Cushing syndrome attributable to an adrenal adenoma.MethodsDetailed clinical, laboratory, radiologic, and pathologic findings are presented, and the pertinent literature is reviewed.ResultsA 49-year-old woman was referred for evaluation of a left adrenal mass (3.0 by 2.4 cm), which had been diagnosed by computed tomographic scan 4 years previously during a work-up for hirsutism. On examination, she had central obesity, facial hirsutism, and male pattern baldness. Work-up showed elevated total and free testosterone levels of 196 ng/dL (reference range, 20 to 70) and 24 pg/mL (1 to 9), respectively. Other results (and reference ranges) were as follows: dehydroepiandrosterone sulfate, 7.5 μg/dL (10 to 221); corticotropin, 12 pg/mL (5 to 50); morning cortisol, 1.4 μg/dL after a 1-mg overnight dexamethasone suppression test; and urine free cortisol, 48.8 μg/24 h (20 to 100). The testosterone level decreased by 14% after a 2-day low-dose dexamethasone suppression test. Findings on transvaginal ovarian ultrasonography and a computed tomographic scan of the pelvis were normal. A laparoscopic adrenalectomy revealed an adrenal adenoma. On the first day postoperatively, the cortisol level was less than 1.0 μg/dL; however, the testosterone level remained elevated. At 6 months postoperatively, a normal result of a cosyntropin stimulation test indicated recovery of the hypothalamic-pituitaryadrenal axis. Bilateral oophorectomy revealed a 1.3-cm right ovarian Leydig cell tumor. Postoperatively, the testosterone level declined to less than 20 ng/dL.ConclusionTo our knowledge, this is the first case report of a virilizing ovarian Leydig cell tumor in a patient with subclinical Cushing syndrome. (Endocr Pract. 2008;14:358-361)     

Residual dysphasia after severe hypoglycemia in a patient with immune-mediated primary Adrenal insufficiency and type 1 diabetes mellitus: Case report and systematic review of the literature

ObjectiveTo describe a 24-year-old patient with immune-mediated primary adrenal insufficiency and type 1 diabetes mellitus (T1DM) receiving intensive diabetes management who was comatose at presentation attributable to severe hypoglycemia and had residual dysphasia after recovery and to summarize the related literature.MethodsWe present a case report and the findings on systematic review of the pertinent literature to identify the cumulative incidence of severe hypoglycemia with use of intensive insulin therapy in patients with primary adrenal insufficiency and T1DM and to determine the incidence of dysphasia after severe hypoglycemia.ResultsAfter 5 days of mechanical ventilation, our patient was revived. He had severe dysphasia after recovery of consciousness. Magnetic resonance imaging of the brain revealed encephalomalacia in the left temporal, frontal, and parietal lobes. After 6 years of follow-up, he continues to have residual deficits of expressive dysphasia and difficult-to-control seizures but no other neurologic disorders. Systematic review of the literature revealed that studies from the 1950s reported mortality due to hypoglycemia in such a cohort, but no recent studies have described the cumulative incidence of severe hypoglycemia in a cohort of patients with primary adrenal insufficiency and T1DM. To the best of our knowledge, we report the first findings on magnetic resonance imaging of the head in such a patient.ConclusionFortunately, residual dysphasia is an infrequent outcome after severe hypoglycemia. (Endocr Pract. 2007;13:384-388)     

Virilizing Adrenal Ganglioneuroma in a Woman with Subclinical Cushing Syndrome

ObjectiveTo describe a patient with a virilizing adrenal ganglioneuroma and subclinical Cushing syndrome.MethodsDetailed clinical, laboratory, radiologic, and pathologic findings are presented, and the pertinent literature is reviewed.ResultsA 56-year-old postmenopausal woman was referred for evaluation of a 3.6- by 3.0-cm right adrenal mass, which had been diagnosed during a work-up for hirsutism. A bilateral oophorectomy done 2 months before the presentation failed to correct the elevated testosterone levels. On examination, she had severe hirsutism on her face, chest, back, and extremities, as well as male pattern baldness and clitoromegaly. Biochemical evaluation showed elevated total and free serum testosterone levels of 319 ng/dL (reference range, 20 to 70) and 78 pg/mL (reference range, 1 to 9), respectively, values in the adult male range. The serum dehydroepiandrosterone sulfate level was 117 μ/dL (reference range, 10 to 152), and the urine free cortisol was 10.4 μg/24 h (reference range, < 45). A laparoscopic adrenalectomy revealed a 5.0-cm adrenal ganglioneuroma containing nests of adrenocortical cells. On the first day postoperatively, the serum cortisol level was < 1.0 μg/dL. At 1 month after adrenalectomy, the total and free testosterone levels had declined to 16 ng/dL and 3.1 pg/mL, respectively. At 2 months postoperatively, normal results of a cosyntropin stimulation test (basal and peak cortisol levels of 13.6 and 20.0 μg/dL, respectively) indicated recovery of the hypothalamic-pituitary-adrenal axis.ConclusionTo our knowledge, this is the first case report of a virilizing adrenal ganglioneuroma with this unique pathologic finding and concomitant subclinical Cushing syndrome. (Endocr Pract. 2008;14:584-587)     

Retroperitoneal Cystic Teratoma Masquerading as an Incidentally Discovered Adrenal Mass

ObjectiveTo report a case of a retroperitoneal cystic teratoma that obscured and compressed the adrenal gland, mimicking a primary adrenal tumor.MethodsThe presenting manifestations, radiographic characteristics, gross and microscopic pathologic features, and results of surgical therapy and long-term follow-up are described.ResultsA 50-year-old African American woman with a 2-year history of low back pain and night sweats had a computed tomographic scan of the abdomen, which revealed an incidental 8 by 4 by 3.5-cm left adrenal mass without a clear plane between the mass and the left crus of the diaphragm. Laboratory studies excluded a functioning adrenal tumor. The tumor was resected laparoscopically. It was compressing but not involving the adrenal gland, nor was it involving the diaphragm. Microscopic evaluation revealed a benign mature cystic teratoma characterized by cystic spaces lined by respiratory epithelium with cartilage, bone, lymphoid tissue, smooth muscle, and ganglionic tissue in the cyst wall. The patient had an uneventful postoperative course and is free of recurrence after 18 months of follow-up.ConclusionAlthough rare, a mature cystic teratoma of the retroperitoneum that compresses the normal adrenal gland may masquerade as a primary adrenal tumor and should be included in the differential diagnosis of a nonfunctioning adrenal incidentaloma. (Endocr Pract. 2011; 17:e130-e134)     

A Case of Adrenal Cavernous Hemangioma Presenting with Progressive Enlargement and Apparent Hormonal Hypersecretion

ObjectiveTo report the case of a man with an adrenal cavernous hemangioma presenting as a progressively enlarging adrenal mass with apparent hormonal hyper-secretion.MethodsWe report the clinical, laboratory, imaging findings, and clinical course of this patient, and we highlight the important atypical features of this case. The literature is reviewed for the typical presentations of adrenal cavernous hemangiomas.ResultsA 59-year-old man presented with an adrenal incidentaloma that had an imaging phenotype suggestive of a pheochromocytoma or an adrenal carcinoma. The hormonal profile also suggested a state of aldosterone and catecholamine hypersecretion. Surgery, however, proved the diagnosis to be an adrenal cavernous hemangioma.ConclusionAlthough adrenal cavernous hemangioma is a rare entity, it should be considered in the differential diagnosis of an adrenal incidentaloma. Its radiologic features are not specific, and the presence of hormonal hypersecretion does not exclude the diagnosis. (Endocr Pract. 2008;14:104-108)     

Delayed treatment of papillary thyroid carcinoma arising from struma ovarii in a patient with history of bilateral salpingo-oophorectomy: a case report

ObjectiveWe present a case of papillary thyroid carcinoma arising from struma ovarii treated erroneously as ovarian adenocarcinoma for more than 3 years.MethodsWe report clinical, surgical, laboratory, and imaging findings of the study patient and review the relevant literature.ResultsA 64-year-old woman was treated for ovarian adenocarcinoma for more than 3 years before it was determined that she likely had papillary thyroid carcinoma arising from struma ovarii. This is the first reported case of thyroid carcinoma arising from struma ovarii in a patient with a history of bilateral salpingo-oophorectomy. Possible etiologies include residual ovarian tissue after oophorectomy, ectopic thyroid, or metastatic thyroid cancer.ConclusionsIt is important to include struma ovarii and thyroid carcinoma arising from struma ovarii in the differential diagnosis, even with a history of bilateral salpingo-oophorectomy. This case emphasizes the importance of effective communication among the pathologist, oncologist, and surgeon to ensure timely initiation of appropriate therapy and reduced patient morbidity. (Endocr Pract. 2012;18:e1-e4)     

X-Linked Adrenal Hypoplasia Congenita: A Case Report and Ethical Dilemma

ObjectiveOur objective is to present the first case report of X-linked adrenal hypoplasia congenita in a child conceived by a donated egg and which also presented atypically, with initial mineralocorticoid deficiency.MethodsCase report with literature review.ResultsA late preterm fraternal twin male, conceived by in vitro fertilization of donated eggs, presented shortly after birth with feeding intolerance, hyponatremia, and hyperkalemia. Testing revealed a low aldosterone level, high plasma renin activity, normal cortisol level, and normal 17-hydroxyprogesterone level. He was diagnosed with 18-hydroxylase deficiency based on low 18-hydroxycorticosterone levels and was treated with mineralocorticoid successfully for 17 months. At age 18 months, he presented with dehydration secondary to herpetic gingivostomatitis and was found to be hypoglycemic, hyponatremic, hyperkalemic, and acidotic, with a low serum cortisol level. An adrenocorticotropic hormone (ACTH) stimulation test revealed low levels of all adrenal cortex products, with an elevated ACTH level. He was started on glucocorticoids. Genetic testing confirmed X-linked adrenal hypoplasia congenita (AHC). His asymptomatic fraternal twin underwent genetic testing and the results were negative. The fertility center records indicated that the mother had donated eggs to other families, but none of the children were known to have this disorder. The egg donor was informed but did not pursue genetic testing.ConclusionWe report a case of X-linked AHC presenting in the context of extraordinary ethical considerations. Our case raises a question unique to the era of assisted reproduction: should routine genetic screening of gamete donors be done for rare but potentially life-threatening conditions? (Endocr Pract. 2014;20:e126-e129)