scholarly journals 21-hydroxylase Deficiency Associated with Adrenal Tumor : Case Report of Two Brothers

1989 ◽  
Vol 65 (5) ◽  
pp. 525-536
Author(s):  
Yasushi SUNAGA ◽  
Mitsushige NISHIKAWA ◽  
Kiyoshi INABA ◽  
Noburo HIROZANE ◽  
Noboru INOUE ◽  
...  
Keyword(s):  
Case Report ◽  
Adrenal Tumor ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

2018 ◽  
Vol 64 (4) ◽  
pp. 432-436
Author(s):  
Ivana Ságová ◽  
Matej Stančík ◽  
Dušan Pávai ◽  
Daniela Kantárová ◽  
Anton Vaňuga ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Rare Combination ◽  
21 Hydroxylase Deficiency

scholarly journals GENDER REVERSAL AND BILATERAL GIANT ADRENAL MYELOLIPOMAS IN A 46,XX PATIENT WITH 21-HYDROXYLASE DEFICIENCY: CASE REPORT AND REVIEW OF THE LITERATURE

2017 ◽  
Vol 3 (3) ◽  
pp. e217-e224 ◽  
Author(s):  
Gregory P. Westcott ◽  
Abdollah Sadeghi-Nejad ◽  
Juan Munoz-Pena ◽  
Adam Blau ◽  
Martin Goodman ◽  
...  
Keyword(s):  
Case Report ◽  
Review Of The Literature ◽  
Hydroxylase Deficiency ◽  
Gender Reversal ◽  
21 Hydroxylase Deficiency

scholarly journals Testicular adrenal rest tumor in infertile man with congenital adrenal hyperplasia: case report and literature review

2011 ◽  
Vol 129 (5) ◽  
pp. 346-351 ◽  
Author(s):  
Giovanni Scala Marchini ◽  
Marcello Cocuzza ◽  
Rodrigo Pagani ◽  
Fábio César Torricelli ◽  
Jorge Hallak ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Tumor Resection ◽  
Testicular Tumor ◽  
Seminiferous Tubules ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency ◽  
Testicular Adrenal Rest

CONTEXT: Synthesis of cortisol and aldosterone is impaired in patients with congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency. Men with CAH have low fertility rates compared with the normal population, and this is related to testicular adrenal rest tumors. Findings of azoospermia in combination with a testicular tumor on ultrasound are likely to have a mechanical cause, especially when in the testicular mediastinum. The preferred treatment method consists of intensive corticoid therapy. However, when the tumor is unresponsive to steroid therapy, surgical treatment should be considered. CASE REPORT: We present the case of a male patient with CAH due to 21-hydroxylase deficiency who presented a testicular tumor and azoospermia. Treatment with low daily corticoid doses had previously been started by an endocrinologist, but after 12 months, no significant change in sperm count was found. Although the adrenocorticotrophic hormone and 17-hydroxyprogesterone levels returned to normal values, the follicle-stimulating hormone (FSH), luteinizing hormone and testosterone levels remained unchanged. Ultrasound examination confirmed that the testicles were small and heterogenous bilaterally, and revealed a mosaic area at the projection of the testis network bilaterally. Magnetic resonance imaging confirmed the finding. Testicular biopsy revealed the presence of preserved spermatogenesis and spermiogenesis in 20% of the seminiferous tubules in the right testicle. The patient underwent testis-sparing tumor resection. After 12 months of follow-up, there was no tumor recurrence but the patient still presented azoospermia and joined an intracytoplasmic sperm injection program.

scholarly journals Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

2013 ◽  
Vol 7 (1) ◽  
Author(s):  
Florbela Ferreira ◽  
João Martin Martins ◽  
Sónia do Vale ◽  
Rui Esteves ◽  
Garção Nunes ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Hypertension With Virilizing Adrenal Tumor

PEDIATRICS ◽  
1978 ◽  
Vol 61 (6) ◽  
pp. 925-927
Author(s):  
Richard L. Siegler ◽  
Marvin L. Rallison
Keyword(s):  
Adrenal Tumor ◽  
Adrenal Tumors ◽  
Intravenous Pyelogram ◽  
Hydroxylase Deficiency ◽  
Body Hair ◽  
Creatinine Concentration ◽  
Local Physician ◽  
Normal Urine ◽  
Childhood Hypertension ◽  
21 Hydroxylase Deficiency

It is not generally recognized that virilizing adrenal tumors can cause severe hypertension, and these tumors are not mentioned in recent review articles of childhood hypertension. This report emphasizes that severe but reversible hypertension can result from these neoplasms. CASE REPORT A boy was well until age 5 years, when deepening of his voice, acne, increasing body hair, progressive muscularity, and enlarging genitalia were noted. When examined by his local physician several months later, virilization was obvious, hypertension (150/100 mm Hg) was present, and initial laboratory studies suggested a 21-hydroxylase deficiency. The presence of hypertension prompted a renal evaluation, which revealed normal urine, serum creatinine concentration, intravenous pyelogram, and renal arteriogram.

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