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Objective:To provide insight into the diagnosis for clinicians, the clinical characteristics, diagnosis and treatment history of 3 patients with 21-hydroxylase deficiency (21-OHD) and testicular adrenal rest tumors (TART) were analyzed.Methods:The clinical, laboratory and imaging data of 3 male patients with 21-OHD and TART, confirmed with CYP21 gene sequencing, from May 2010 to May 2021 in the First Medical Center of Chinese PLA General Hospital were analyzed retrospectively. The treatment strategy and clinical outcome were followed up.Results:All the 3 patients were first diagnosed with bilateral adrenal mass at the age of 27-42 years old. They were 145-162 cm tall. The levels of progesterone, 17-hydroxyprogesterone, and adrenocorticotropic hormone (ACTH) of the 3 patients were relatively high, and that of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) of the 3 patients were low. Testosterone level of 1 patient was significantly elevated, and that of the other 2 patients was below the lower limit of normal range. Testicular ultrasound showed heterogeneous hyperechoic masses in both testes. CT of the adrenal glands showed bilateral adrenal enlargement with mass. All 3 patients were treated with dexamethasone. After 4-96 months of follow-up, 17-hydroxyprogesterone level was kept above the median normal level. One of the patients got married and had a baby after treatment. The sizes of adrenal hyperplasia and testicular masses reduced to various degrees with the change of the testicular masses being proportional to that of adrenal hyperplasia.Conclusions:Patients with 21-OHD are prone to have TART, leading to the impaired testicular function. Early glucocorticold therapy is beneficial to the reduction of TART and restoration of testicular function.
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Objective To assess the clinical diagnosis and treatment of 21-hydroxylase deficiency nonclassic congenital adrenal hyperplasia (NCCAH) complicated by testicular adrenal rest tumors (TART),thus to improve the recognition of the disease.Methods The clinical data of one patient of NCCAH with TART from our department in 2016 were retrospectively studied,and were analyzed combined with related literature,and the diagnosis was established for treatment.Results The patient was a 17 years old boy.At the age of seven began to appear the pubic hair,voice and other secondary sexual performance.More than their big penis development was significantly higher than their peers.At the age of 12 found bilateral testicular gradually enlarged and attendance.Physical examination:bilateral testicular swelling and a sense of nodules,hard texture,epididymis,normal bilateral varicocele.Laboratory exam indications showed increased levels of progesterone(P),adrenocorticotropic hormone(ACTH),17 hydroxyprogesterone(17α-OHP),aaldosterone(ALD),17-hydroxyl corticosteroids(17-OHCS),17-ketone corticosteroids(17-KS).By the ACTH stimulating test,17α-OHP was increased.Bilateral testes MRI:irregular bilateral testes,signal,see in space.Enhanced scan lesions uniform reinforcement,germ cell tumors to row.Adrenal CT:bilateral adrenal hyperplasia.Testicular biopsy:testicular adrenal genital syndrome tumor.Genetic testing:CYP21A2 heterozygous mutations.The above test results were diagnosed of NCCAH 21-OHD with TART.The patient was orally given 10mg/d prednisone 2 time.3 months after treatment,the 17α-OHP,CO and sex hormones returned to normal.Review the adrenal CT showed significant bilateral adrenal shrink,Pa/testis tubercle was narrow,but not obvious.Semen routine still suggested no sperm,considering the TART medical treatment effect was poor.Hence,further line tumor removed,followed up for 3 months without tumor recurrence at present.Conclusion NCCAH complex and varied clinical manifestations and hidden.Not easy to be noticed by patients and clinicians.For the early childhood in pubic hair growth accelerated leading to premature epiphyseal fusion and make the adult height is short stature consideration should be given to the disease.Further lines of sex hormones,adrenal related endocrine examination,genetic testing and ACTH stimulating test,etc.If concurrent bilateral testicular nodules,should consider to merge TART may.Testicular biopsy can be clear.Treatment can choose according to TART classification of glucocorticoid (a hormone steroid) or surgical treatment,concrete scheme should be individualized.
ABSTRACT
The primary bilateral macronodular adrenal hyperplasia or the independent adrenocorticotropic hormone bilateral nodular adrenal hyperplasia is a rare cause hypercortisolism, its diagnosis is challenging and there is no clear way to decide the best therapeutic approach. Adrenal venous sampling is commonly used to distinguish the source of hormonal production in patients with primary hyperaldosteronism. It could be a useful tool in this context because it might provide information to guide the treatment. We report the case of a patient with ACTH independent Cushing syndrome in whom the use of adrenal venous sampling with some modifications radically modified the treatment and allowed the diagnosis of a macronodular adrenal hyperplasia.
La hiperplasia macro nodular bilateral o hiperplasia adrenal nodular bilateral independiente de la hormona adrenocorticotrópica es una de las causas menos frecuentes de hipercortisolismo, su diagnóstico supone un reto y no se tiene claridad de cuál es la mejor aproximación terapéutica. El muestreo venoso adrenal que frecuentemente se utiliza para hacer la distinción del sitio de producción hormonal en el hiperaldosteronismo primario podría ser una herramienta útil en este contexto ya que podría brindar información que pudiera guiar el tratamiento. Presentamos el caso de una paciente con síndrome de Cushing ACTH independiente en quien el uso del muestreo venoso adrenal con algunas modificaciones cambio de manera radical el tratamiento y permitió confirmar una hiperplasia adrenal macro nodular.
Subject(s)
Aged , Female , Humans , Adrenal Glands/pathology , Adrenocorticotropic Hormone/blood , Cushing Syndrome/diagnosis , Cushing Syndrome/pathologyABSTRACT
Objective To analyze retrospectively the application of hormone biochemical test in the diagnosis of adrenal diseases,to provide theoretical guidance for the clinical diagnosis of adrenal diseases.Methods The clinical data of 110 cases of patients with adrenal diseases were analyzed retrospectively,the conventional inspection group and the hormone biochemiscal test group were divided according to the different testing methods.The efficiency in test results was compared between two groups.Results A total of 41 cases were effective,14 cases were ineffective,the efficiency was 74.5％(41/55) in the conventional inspection group,53 cases were effective,2 cases were invahd,the efficiency was 96.4％(53/55) in the hormone biochemical test group,the efficiency in the hormone biochemical test group was significantly better than that in the conventional inspection group by statistical analysis (P ＜ 0.05).Conchsions Compared with conventional inspection test,the hormone biochemical test group in the diagnosis of adrenal diseases result is more accurate,which can be used as an important supplementary mean of adrenal diseases diagnosis.
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Twelve cases of adrenocorticotropic hormone-independent macronodular adrenocortical hyperplasia were retrospectively reviewed.All cases had physical signs and biochemical evidence of Cushing syndrome. Urinary free cortisone(UFC)levels were not suppressed by high dose and low dose dexanethasone suppression tests,and plasma adrenocorticotropic hormone levels were low in all patients.CT scan showed bilateral enlarged adrenal glands in all cases,and histopathologic examination confirmed bilateral adrenal macronodular hyperplasia. The follow-up revealed that 4 patients had a normal blood pressure 8y after bilateral adrenalectomy. In 8 cases the blood pressure was rebound 3y after single side adrenalectomy,6 of whom had medical treatment; 2 of whom had contralateral adrenalectomy and the blood pressure returned to normal afterwards.There was no Nelson syndrome in all cases.
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CONTEXT: Carney complex (CNC), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. This is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (PPNAD), is an uncommon cause of adrenocorticotropic hormone-independent Cushing's syndrome. CASE REPORT: We report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. Following the diagnosing of CNC and PPNAD, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. Screening was also performed for other tumors related to this syndrome. The diagnostic criteria, screening and follow-up for patients and affected family members are discussed.
CONTEXTO: O complexo de Carney (CNC), uma síndrome de neoplasia múltipla familiar com transmissão autossômica dominante, caracteriza-se por tumores cardíacos, cutâneos, endócrinos e do sistema nervoso periférico, além de lentiginose cutânea. RELATO DE CASO: Devido à raridade da síndrome, bem como de sua principal manifestação endócrina, a doença adrenal nodular pigmentada primária (PPNAD), causa incomum de síndrome de Cushing ACTH-independente, relatamos o caso de uma paciente de 20 anos com história de ganho de peso, hirsutismo, acne, amenorréia secundária e lentiginose em face. Após estabelecido o diagnóstico de CNC e PPNAD, a paciente foi submetida a adrenalectomia bilateral via laparoscópica, evoluindo com melhora do hipercortisolismo. Também foi realizado rastreamento para os demais tumores relacionados à síndrome. Serão discutidos os critérios diagnósticos, o rastreamento e o acompanhamento dos pacientes e familiares afetados.
Subject(s)
Humans , Female , Adolescent , Adrenal Cortex Diseases/pathology , Cushing Syndrome/diagnosis , Lentigo/complications , Multiple Endocrine Neoplasia/diagnosis , Luminescent Measurements , Adrenal Cortex Diseases/blood , Adrenal Cortex Diseases/complications , Adrenal Cortex Diseases , Adrenalectomy , Cushing Syndrome/complications , Cushing Syndrome/etiology , Cushing Syndrome/surgery , Immunoassay , Lentigo/genetics , Multiple Endocrine Neoplasia/genetics , Tomography, X-Ray ComputedABSTRACT
To evaluate the significance of plasma ACTH, serum cortisol and UFC levels as well as ACTH stimulation test, aminoglutethimide test and insulin induced hypoglycemia test in patients with adrenal insufficiency. Sixteen patients with primary insufficiency (Addison`s disease) and 75 cases with secondary insufficiency (hypopituitarism) diagnosed from 1985 to 1999 were reviewed. It was found that high levels of ACTH were detected in all patients with primary insufficiency, and in most of them the levels of cortisol and UFC were low. No response of cortisol and UFC were observed after ACTH stimulation in the patients with primary insufficiency, but normal or delayed action was observed in the patients with secondary adrenal insufficiency. In most of secondary adrenal insufficiency the ACTH levels were in normal range but the cortisol and UFC levels were low; the elevated action of ACTH by insulin induced hypoglycemia test or aminoglutethimide test did not appear in the patients with secondary adrenal insufficiency. The results suggested that the low levels of cortisol and UFC were a common feature in the most of patients both with primary or secondary adrenal insufficiency. The ACTH level was the key indicator to distinguish the primary adrenal insufficiency from secondary adrenal insufficiency, as the ACTH levels were remarkably elevated in primary patients but were normal or decreased in secondary insufficiency patients. The ACTH stimulation test was useful in the diagnosis of the primary or secondary adrenal insufficiency. The insulin induced hypoglycemia test or aminoglutethimide test was valuable in the diagnosis of the secondary adrenal insufficiency.