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Congenital Adrenal Hyperplasia and Vanishing Testis: Rare Case of Male Pseudohermaphroditism

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Congenital Adrenal Hyperplasia and Vanishing Testis: Rare Case of Male Pseudohermaphroditism Int J Reprod BioMed Vol. 14. No. 3. pp: 213-216, March 2016 Case report Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism Azam Ghanei1 M.D., Golnaz Mohammadzade1 M.D., Ehsan Zarepur2 M.D. Student, Sedigheh Soheilikhah1 M.D. 1. Department of Internal Abstract Medicine, Shahid Sadoughi University of Medical Sciences, Background: Congenital adrenal hyperplasia (CAH) and vanishing testes are Yazd, Iran. uncommon diseases that can result from hormonal and mechanical factors. Classic 2. Student Research Committee, CAH is determined by ambiguous genitalia and increase in amount of 17- Shahid Sadoughi University of Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a Medical Sciences, Yazd, Iran. rare condition. Case: A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotyping was done because of uncertainty in primary diagnosis, which revealed 46XY. For finding location of testes, ultrasonography and MRI were done and nothing was Corresponding Author: found in abdomen, inguinal canal or scrotum. Inhibin B serum level was measured Golnaz Mohammadzade Shahid Sadoughi hospital, Sina Blvd., to find out whether testis tissue was present in the body, which was <1 pg/ml and Shahid Ghandi Blvd., Safaeyeh, vanishing testis was confirmed. Yazd, Iran. Conclusion: Early diagnosis and treatment are essential to prevent further sequels Email: [email protected] and karyotyping for all patients with CAH is recommended. Lifelong treatment with Tel: (+98) 35 38224000 synthetic glucocorticoid replacement is necessary. Received: 23 January 2016 Accepted: 16 March 2016 Key words: Congenital adrenal hyperplasia, Vanishing testes, Ambiguous genitalia. Introduction syndrome) is a rare syndrome in which testes are absent in male person and is seen in˂5% ongenital adrenal hyperplasia (CAH) of cryptorchidism cases. The specific factor refers to any of several autosomal58T 58T has not yet been known. This disease can be C recessive58T 58T diseases58T 58T resulting from unilateral or bilateral and commonly external deficiency of one of five enzymes required for genitalia are normal. synthesis of cortisol in adrenal cortex. Most Diagnosis of vanishing testis syndrome is frequent is 21-hydroxylase deficiency and based on clinical presentation. Micropenis due about 1 in 16,000 children are born with to prenatal disorders is an important symptom classic 21-hydroxylase deficiency (1). in infants with bilateral anorchia. Also delayed Classic 21-hydroxylase deficiency is puberty (pre pubertal primary hypogonadism) characterized by elevated serum levels of 17- is a common complaint in males with hydroxyprogesterone (1, 2). There is a wide congenital anorchia. On examination, spectrum of phenotypes. Clinical signs of physician cannot palpate testes and blind- classical 21-hydroxylase deficiency are ending spermatic cords are a common finding observed prenatally or at birth and are that shows the presence of the testis in early subdivided into a salt-wasting form, which is fetal life. Testosterone and gonadotropin more severe, and a simple virilizing form. non- concentrations are commonly low in this classical type which is the least severe form, syndrome (4). manifests later in life (3). The aim of present report was to analyze Testes function can lead to internal and the clinical and hormonal findings in a patient external genital differentiation and affected with congenital bilateral anorchia and development especially during fetal age. So, CAH and also to determine any possible many factors can interfere this process. relationship with congenital adrenal Congenital anorchia (vanishing testis hyperplasia. Ghanei et al Case report was present in the body which was <1 pg/ml and vanishing testis was confirmed. After one A 22-year-old boy, known case of CAH month of therapy, serum level of testosterone who was diagnosed as female decreased to level 0.025 ng/ml. Oral consent pseudohermaphroditism due to ambiguous was obtained from the patient. genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal Table I. Laboratory data of patient Test Result Normal range pain and hematuria. His first presentations 17-OHP (ng/mL) 46 0.5-2.4 were ambiguous genitalia, nausea and Testosterone (ng/dL) 4.6 3-7 DHEAS (μg/dL) 3.7 199-334 vomiting. He was under irregular treatment FSH (mlu/mL) 0.1 0.1-3 with prednisolone and fludrocortisone since LH (mlu/mL) 0.1 0.1-3 Serum ACTH (pg/mL) 1000 10-50 diagnosis. Parents were relatives. No CAH or Serum Cortisol (μg/dL) 2 6-17 other endocrine abnormalities had been Na (mEq/ L) 142 135-145 diagnosed in his family members. K (mEq/ L) 4.1 3.5-5.5 17-OHP: 17-Hydroxyprogesterone He was referred because of colicky DHEAS: dehydroepiandrostenedione sulfate abdominal pain and hematuria without nausea FSH: Follicle-stimulating hormone LH: Luteinizing hormone or vomiting. He weighed 60 kg (height 156 ACTH: Adrenocorticotropic Hormone cm; body mass index 24.7 kg/m2), blood pressure was 125/80 mmHg, with no Discussion orthostatic change. Thyroid and abdomen examination were normal. In breast CAH is an autosomal recessive disorder examination, there was no gynecomastia. resulting from 21-hydroxylase deficiency (21- Skin examination revealed marked genitalial, OH CAH). More than 95% of cases are areola and gingival hyperpigmentation. caused by 21-hydroxylase deficiency (1). Phallus length was 6 cm. testes were not These enzymatic defects in steroid pathway palpable in scrotum. He had axillary and pubic lead to switching the process of aldosterone terminal hair (his pubarche was Tanner V). and cortisol synthesis into other pathways His bone age was 18. Other systemic (sex hormones) and over production of intermediate metabolites. Potential clinical examinations were normal. effects occur due to these metabolites and Because of hematuria, some tests were other hormones (5). Most patients can have done. In ultrasonography prostate tissue was different degrees of symptoms. Lack of reported which was smaller than normal size. aldosterone results in hyponatremia, According to these findings, some other tests hyperkalemia, hypotension, acute dehydration were requested which are presented in table I. and vomiting. Also, it can be life-threatening. According to lab findings, treatment started Hyperandrogenism is the other problem. It can with dexamethasone 0.5 mg/day and cause abnormal development in children fludrocortisone 0.05 mg/day in single dosage including abnormal development of genitalia in and tests were repeated after a month. both male and female (1). Karyotyping was performed because of CAH is the most common cause of uncertainty in primary diagnosis, which ambiguous genitalia resulting from revealed 46XY. For finding the location of hyperandrogenism. This can cause enlarged testes, ultrasonography and magnetic clitoris, fused labia major and other dysfunction in genital system. Girls are more resonance imaging (MRI) were done and easily diagnosed but boys have no overt signs nothing was found in abdomen, inguinal canal except premature pubarche, virilization, or scrotum. hyperpigmentation around the genitalia and Appendectomy was performed because of penile enlargement (4, 6). It is categorized into persistence of abdominal pain. Despite two major types. The severe type of CAH is appendectomy, the abdominal pain continued. known as classical CAH (salt-wasting) and the Laparoscopy was performed to find the testes milder type is known as non-classical CAH which were unrevealing. Inhibin B serum level (late onset).The late onset CAH form starts in was measured to find out whether testis tissue women at any age. This form presents with 218 International Journal of Reproductive BioMedicine Vol. 14. No. 3. pp: 213-216, March 2016 Congenital Adrenal Hyperplasia and vanishing testis normal genitalia at birth in both males and Ultrasonography is non-invasive, non-ionizing females. and very useful technique. It is actually difficult In fact, this type has similar symptoms to to differentiate between testis and inguinal polycystic ovary syndrome. Usually we cannot lymph nodes. MRI is a gold standard detect this type in men. In the severe type, diagnostic test (19). In this patient for finding loss of salt from the body is the main problem. the location of testes, ultrasonography and Hyperandrogenism is much more severe in MRI have been done and nothing was found this type (7). The prevalence of mild type is 1 in abdomen, inguinal canal or scrotum and in 1700 in general population but the prostate was normal. Clinical findings are not prevalence of severe type is 1 in 10000 specifically diagnostic, and must be confirmed among Caucasians (8). CAH due to 21- by endocrinological evaluation such as GnRH hydroxylase deficiency may affect the final and hCG tests (20). Inhibin B serum level was height of these patients (9, 10). Also measured, which was <1 pg/ml, and vanishing glucocorticoids can cause growth retardation testis was confirmed. Also after one month (11). therapy with dexamethasone and We can diagnose CAH in fetus by fludrocortisone, serum level of testosterone amniocentesis and chorionic villus sampling. decreased to pre-pubertal level (0.025 ng/ml) We can treat this to prevent birth defects. which indicates that the origin
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