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CONGENITAL ADRENAL HYPERPLASIA (CAH): PRESENTATION WITH AMBIGUOUS GENITALIA.

Byline: Syed Khawar Ali, Rizwan Hashim, Farooq Ahmad Khan and Salman Ali

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Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis due to deficiency of enzymatic activities necessary for its synthesis. It is a recessively inherited disorder and has an average incidence of 1:5000, the most common of these is 21-hydroxylase deficiency that accounts for 95% of involved cases1. Females with classical 21-hydroxylase deficiency, being exposed to excess androgens prenatally, are born with virilized external genitalia2,3. By associating the genotype with phenotype will enable the clinicians to predict the clinical outcome in affected patients. CASE REPORT A 5-day-old child was brought to out patient department of Paediatrics, Military Hospital (MH), Rawalpindi, Pakistan with ambiguous genitalia since birth. Her parents were consanguineous. There was history of taking contraceptive pills by the mother during first trimester due to ignorance about her pregnancy. The mother also gave the history of death of a daughter at the age of 3 months who had similar complaints.

Rest of the history and general physical examination were unremarkable. The genital examination revealed hyperpigmented genital fold, prominent phallus and single uro-genital opening. The gonads were not palpable; rest of the systemic examination did not reveal any abnormality. Radiologically, bone age was normal. Ultrasonographic study showed female internal genital tract and gonads. The patient karyotype was 46XX. The laboratory investigations revealed hyperkalemia, hyponatremia with markedly high 17 hydroxyprogesterone (17-OHP), ehydroepiand-rostenedione sulphate (DHEA - S) and low Serum Cortisol. These findings were consistent with salt losing form of CAH. The patient was prescribed tab Fludrocortisone 0.05 mg BD and tab Hydrocortisone 20 mg/m2/day. The parents were informed about the different treatment modalities and were counseled regarding curative surgical procedures. She was assigned female gender. Her vaginoplasty was carried out in June 2002.

No issue was reported by the parents following the reconstructive surgery. She was discharged with advice to continue hormone replacement treatment and regular visits in child OPD, Military hospital Rawalpindi. After treatment, serum DHEA-S levels were within reference range. There was improvement in serum: sodium and potassium, urinary: sodium and potassium. However, the level of serum 17 Hydroxy progesterone was still high mainly due to non compliance of the patient. No issue regarding the complications of medical treatment reported. The patient is currently on tab hydrocortisone 20 mg/m2/day and tab fludrocortisone 0.1 mg OD and is regularly being followed up in Child OPD Military Hospital Rwp. DISCUSSION Congenital adrenal hyperplasia (CAH) is a very rare disease. Patients may either present with ambiguous genitalia at birth or have late onset features4. 21- hydroxylase deficiency is the most common cause of CAH. The gene responsible for this disorder is located at the short arm of chromosome 6 (6p21.3)5.

In Pakistani population, the prevalence of CAH is expected to be high due to the high frequency of parental consanguinity among the population3. In our population, the gene(s) frequency for CAH is probably common3. CAH is presented in 3 forms. Classical salt-losing form, classical non-salt losing form and non-classical late-onset form. In first two conditions, boys may present with precocious puberty and the girls with ambiguous genitalia6. The non-classical late onset type usually presents with hirsutism, clitoromegaly and amenorrhea6. Other clinical presentations include vomiting, shock and failure to thrive7.. The basis of diagnosis is elevated serum 17- Hydroxy progesterone level. In salt-losing type, hyperkalemia and hyponatremia are usually common6. A milder simple virilizing form may presen t with ambiguous genitalia and marked virilization of the newborn with female karyotype often causing uncertainty in assignment of sex8. Late-onset CAH presents as precocious puberty in later childhood.

This form may also become evident at puberty or adulthood with signs of androgen excess including acne, advanced bone age, tall stature, hirsutism, amenorrhea or infertility8,9. Studies have shown variable incidence of non-classic 21-OH deficiency in children presenting with an early onset of puberty as well as with hirsutism in adult females10. Majority of children having male karyotype present with salt wasting early on and precocious puberty at later ages. Patients having female karyotype mostly present early with either or both of salt wasting and simple virilizing form of CAH3. The standard therapy for CAH is steroids replacement (tab: hydrocortisone, prednisone or dexamethasone), fludrocortisone (given in salt losing type), and clitoroplasty and vaginoplasty in virilized females, if indicated6.. Neonatal screening or prenatal diagnosis and treatment are advisable to the high-risk groups3.

Such neonates should be investigated by serum 17-OHP analysis some days postnatally to rule out the 25% risk for CAH3. The main aim of treatment is to correct the visible anatomical abnormalities, creating an appearance coinciding the gender and making an individual to lead a normal life, including sexual function and if possible, reproduction. Clitoral reduction is a procedure which often leaves the glans clitoral keeping the tactile sensation intact11. The technique of cliteroplasty is modified depending upon the size of phallus. Good cosmetic and tactile results may be achieved by selective lateral clitoral and corpora cavernosa excisions, preserving the glans and neurovascular bundle12. In patients with CAH, depression and stress are often reported, particularly weight gain is associated with steroid replacement therapy13. The management is thus based on multidisciplinary care with endocrinology, gynaecology and psychology expert teams4.

Reference

1. McKusic V. Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency. Online Mendeliane Inheritance of Man, OMIM* 201910.

2. Forest MG, Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004; 10: 469-85.

3. Bhanji R, Khan AH, Balouch IL, Sabir S, Nazir Z, Billoo AG. Profile of children with congenital adrenal hyperplasia-a hospital study. J Pak Med Assoc. 2004; 54: 10: 509-12.

4. Mustafa R, Haleema AH and ShafaatUllah. Congenital adrenal hyperplasia causing clitoromegaly. Journal of the College of Physicians and Surgeons Pakistan 2008, 18: 6: 378-9

5. Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995; 30: 171-7.

6. Ahmed J. Al-Zahrani. Adrenal hyperplasia and congenital glaucoma in a family: report of a rare case. Annals of Saudi Medicine, 2002; 22: 3-4: 219-20.

7. Aziz S, Ali S, Hasan S, Badsha S.Mode of presentation and short term response to treatment in cases of Congenital Adrenal Hyperplasia (CAH) detected over a period of one year at Military Hospital Rawalpindi. Pak Armed Forces Med J. 2006; 56: 2:125-8.

8. Hughes IA. Congenital adrenal hyperplasia - a continuum of disorders. Lancet 1998; 352:752-4.

9. Leonard SL. Congenital adrenal hyperplasia. Pediatrics in Review 2000; 5:159-70.

10. Pang SY, Wallace MA, Hoffman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866-74.

11. Oyama IA, Steinberg AC, Holzberg AS, Maccarone JL. Reduction clitoroplasty: a technique for debulking the enlarged clitoris. J Pediatr Adolesc Gynecol. 2004; 17: 393-5.

12. Zaparackaite I, Barauskas V, Nielsen HO, Jokela R. Adrenogenital syndrome: feminizing genital reconstruction. Medicina 2002; 38: 706-11.

13. Morgan JF, Murphy H, Lacey JH, Conway GS. Long term psychological outcomes of women with congenital adrenal hyperplasia: cross-sectional survey. BMJ 2005; 330: 340-1.
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Publication:Pakistan Armed Forces Medical Journal
Article Type:Report
Geographic Code:9PAKI
Date:Sep 30, 2010
Words:1193
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