Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Nermoen, Ingrid; Følling, Ivar; Vegge, Kjetil; Larmo, Arne; Nedrebø, Bjørn Gunnar; Husebye, Eystein S.; Løvås, Kristian

doi:10.1155/2009/916891

Cited by 18 publications

(21 citation statements)

References 18 publications

(28 reference statements)

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“…Less than 20 cases of adrenal myelolipomas in patients with congenital adrenal hyperplasia have been reported most of which were unilateral [8,9], in contrast with our case which is characterized by presence of bilateral giant myelolipomas. It seems that prolonged stimulation of the adrenal cortex by high ACTH levels contributes to the development of myelolipomas [8,9].…”

Section: Discussioncontrasting

confidence: 91%

“…Also, adrenal myelolipoma has been associated with endocrine disorders, most commonly congenital adrenal hyperplasia and Cushing syndrome, and chronic stressful conditions such as obesity, diabetes mellitus, hypertension, chronic inflammatory processes and even malignancy [1,2]. Less than 20 cases of adrenal myelolipomas in patients with congenital adrenal hyperplasia have been reported most of which were unilateral [8,9], in contrast with our case which is characterized by presence of bilateral giant myelolipomas. It seems that prolonged stimulation of the adrenal cortex by high ACTH levels contributes to the development of myelolipomas [8,9].…”

Section: Discussioncontrasting

confidence: 61%

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Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia

Ioannidis

Papaemmanouil

Chatzopoulos

et al. 2011

Pathol. Oncol. Res.

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Adrenal myelolipoma is an uncommon, benign, biochemically non-functioning and endocrinologically inactive tumor composed of variable amounts of mature adipose tissue and scattered islands of haemopoietic elements, including erythroid, myeloid and lymphoid series, as well as megakaryocytes. Diagnosis of myelolipomas is based on imaging, with ultrasonography, CT and MRI being effective in more than 90% of cases. Differential diagnosis includes other containing fat adrenal masses such as teratoma, lipoma and liposarcoma. The optimal treatment depends on the size and symptoms of the myelolipoma. For incidentally discovered, asymptomatic adrenal myelolipomas smaller than 4 cm surveillance seems to be enough while symptomatic, complicated, hormonally active and larger than 7 cm myelolipomas, should be surgically removed. We present a case of giant bilateral symptomatic adrenal myelolipomas associated with congenital adrenal hyperplasia. A 34 year old female, with congenital adrenal hyperplasia because of 21-hydroxylase deficiency, presented with diffuse abdominal pain and vomiting. Physical examination revealed hirsutism, pronounced virilization and palpable masses both on the right and left abdominal area. The abdominal CT demonstrated bilateral large masses in the anatomical position of the adrenal glands with densities indicating adipose tissue. The differential diagnosis was between myelolipoma and liposarcoma. For diagnostic and also therapeutical reasons, as the masses were large and symptomatic and causing pressure to the surrounding structures, the patient was submitted to laparotomy for bilateral excision. Histopathological examination established the diagnosis of adrenal myelolipoma.

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Section: Discussioncontrasting

confidence: 91%

Section: Discussioncontrasting

confidence: 61%

Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia

Ioannidis

Papaemmanouil

Chatzopoulos

et al. 2011

Pathol. Oncol. Res.

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“…However, only two out of seven cryptic parents who underwent imaging were found to have adrenal abnormalities (hypertrophy in one patient, hypertrophy and a 1.5-mm myelolipoma in another patient), despite the older age of these individuals (up to age 66 years) and the generous stimulated 17-OHP concentrations. Interestingly, the adrenal tumor observed in our parent with cryptic NCCAH was a myelolipoma, which has been associated with CAH (33, 34). Adrenal myelolipomas are generally benign, asymptomatic, and do not require resection, but large tumors may suggest the diagnosis of CAH (35–37).…”

Section: Discussionmentioning

confidence: 75%

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

Nandagopal

Sinaii

Avila

et al. 2011

European Journal of Endocrinology

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Objective To comprehensively phenotype parents identified with nonclassic congenital adrenal hyperplasia (NCCAH) by family genetic studies, termed here as cryptic NCCAH and to define the incidence of cryptic NCCAH in the parents of a large cohort of patients with 21-hydroxylase deficiency. Design Genotyping was performed on 249 parents of 145 unrelated congenital adrenal hyperplasia CAH) patients. Parents with two CYP21A2 mutations underwent extensive evaluation. Results Of the 249 parents, ten (4%; seven females and three males) were identified as having cryptic NCCAH. The majority was of ethnicities previously reported to have a higher incidence of NCCAH. Cosyntropin stimulation performed in eight parents provided biochemical confirmation (17-hydroxyprogesterone range 56–364 nmol/l) and cortisol response was % 500 nmol/l in three parents (38%). Of the seven women (27–54 years) with cryptic NCCAH, four had prior infertility, two reported irregular menses, two had treatment for hirsutism, one had androgenic alopecia. Men were asymptomatic. All cryptic NCCAH parents reported normal puberty and had normal height. Adrenal hypertrophy and a small adrenal myelolipoma were observed in two parents; testicular adrenal rest tissue was not found. Conclusions Parents diagnosed with NCCAH by genetic testing are mostly asymptomatic. Temporary female infertility and suboptimal cortisol response were commonly observed. Ongoing glucocorticoid therapy is not indicated in adults with CAH identified by family genotype studies unless symptomatic, but glucocorticoid stress coverage should be considered in select cases. Parents of a child with CAH have a 1:25 risk of having NCCAH; if the mother of a child with CAH has infertility, evaluation for NCCAH is indicated.

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“…This is intriguing, since CAH is an autosomal recessive trait with expected equal sex ratio, and may be interpreted as increased neonatal male mortality because of adrenal crises, as male infants are less readily diagnosed and treated than female infants (22). Another explanation may be that some boys with the SV form of CAH remain undiagnosed in adult age (24).…”

Section: Discussionmentioning

confidence: 99%

Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway

Nermoen

Husebye

Svartberg

et al. 2010

European Journal of Endocrinology

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Background: Patients with classical congenital adrenal hyperplasia (CAH) require life-long corticosteroid therapy, with uncertain health outcome. Investigations of subjective health status in unselected populations of adult patients are needed. Objective: To identify all adult Norwegian patients with CAH and obtain population-based data on subjective and psychological health status, working ability and fertility. Patients, methods and design: Classical CAH patients were identified through search in electronic diagnosis registries at all the university hospitals in Norway. The diagnosis was verified by scrutiny of medical records. The patients were invited to a questionnaire survey including medical history, and the Short Form-36 (SF-36) and Quality of Life Scale questionnaires. The questionnaire responses and fertility data were compared with normative data. Results: We identified 104 adult patients (101 alive) with classical CAH (63% female), yielding overall incidence at 1/20 000 live births (1/16 000 in females). Seventy-two (72%) responded; median age 38 years (range 18-72). All the SF-36 scales were significantly impaired, most pronounced for general health and vitality perception. Working disability was reported by 19% of the patients, compared with 10% in the general population. The female patients were often single, and the CAH women had only 21% of the expected number of children compared with the general population. Conclusion: In this population-based survey of patients with classical CAH, we found that subjective health status and working ability were impaired, and that fertility was reduced in females. There is a need for improvement of the medical treatment and the general care of this patient group.

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Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency

Cited by 18 publications

References 18 publications

Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia

Giant Bilateral Symptomatic Adrenal Myelolipomas Associated with Congenital Adrenal Hyperplasia

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

Subjective health status in men and women with congenital adrenal hyperplasia: a population-based survey in Norway

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