Metformin-Responsive Classic Salt-Losing Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: A Case Report

2008 ◽  
Vol 14 (7) ◽  
pp. 889-891 ◽  
Author(s):  
Ann Mapas-Dimaya ◽  
Levon Agdere ◽  
Gul Bahtiyar ◽  
Jose Mejia ◽  
Alan Sacerdote
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
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 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
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