Congenital Adrenal Hyperplasia

Salman, Hussein; Abanamy, Ahmed; Basset, G; Khalil, Mohammed

doi:10.5144/0256-4947.1991.9

Cited by 12 publications

(17 citation statements)

References 15 publications

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“…This high occurrence is a reflection of multiple sibling involvement of a common autosomal recessive disorder in this community 1314. Saedi-Wong et al15 showed a high rate of parity and consanguineous mating among the Saudi population.…”

Section: Discussionmentioning

confidence: 91%

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Ambiguous genitalia: two decades of experience

Al-Jurayyan

2011

Annals of Saudi Medicine

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BACKGROUND AND OBJECTIVES:Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation.DESIGN AND SETTING:A retrospective study conducted in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008.PATIENTS AND METHODS:Medical records of children with ambiguous genitalia were reviewed and the genitalia described.RESULTS:Of the 81 children with ambiguous genitalia, 53 (65.4%) patients were genetically females (46XX), with congenital adrenal hyperplasia being the common cause in 51 (96.5%) patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex (46XY) was present in only 28 (34.6%) patients with a diversity of causes; multiple congenital anomalies in 9 (32.1%), local anorectal anomalies in 2 (7.1%), congenital adrenal hyperplasia (3-β-hydroxysteroid dehydrogenase deficiency) in 2 (7.14%), 5-α-reductase deficiency in 4 (14.28%), partial androgen insensitivity in 3 (10.7%), complete androgen insensitivity in 4 (14.28%), and hypogonadotrophin deficiency in 4 (14.3%).Twenty-five (47.2%) of females were wrongly assigned as males, where only two (7.1%) males were wrongly assigned as females.CONCLUSION:Ambiguous genitalia, currently termed disorders of sex development (DSD), is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae.

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Section: Discussionmentioning

confidence: 91%

“…The diagnosis should be suspected after accurate physical examination, detailed history, including family history, hyperpigmentation and salt loss. The specific etiological diagnosis can be achieved by the appropriate hormonal investigations 13–14…”

Section: Discussionmentioning

confidence: 99%

Ambiguous genitalia: two decades of experience

Al-Jurayyan

2011

Annals of Saudi Medicine

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“…The cases in this group were due to congenital adrenal hyperplasia because of 21-hydroxylase deficiency in 20 (74%) and 11β-hydroxylase deficiency in seven (26%), the two conditions characterized by elevated 17α-hydroxyprogesterone and 11-deoxycortisol respectively. 16 This high occurrence is a reflection of the not uncommon autosomal recessive disorder, namely congenital adrenal hyperplasia, seen in this community, 1,[4][5][6][7] which is most likely due to the high rate of consanguinity. 17 As indicated above, there should be no debate on reassigning the sex of these children to the correct female gender.…”

Section: Discussionmentioning

confidence: 99%

“…3 In a community where this condition is. not uncommon, 1,[4][5][6][7] health personnel will continue to face improperly sex-assigned children and young adults at different ages and circumstances. In this study, we retrospectively reviewed 30 cases in which sex reassignment was indicated.…”

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confidence: 99%

Sex Reassignment: A Challenging Problem—Current Medical and Islamic Guidelines

et al. 1996

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Sexual ambiguity is a complex and often confusing medical problem. In addition to the life-threatening adrenal crises which may accompany some forms, ambiguity of the genitalia may lead to incorrect sex assignment by parents and/or health personnel. Children who present to medical attention beyond the neonatal period constitute a challenging problem due to the grave consequences of this condition. Thirty cases in whom sex reassignment was indicated were seen at King Khalid University Hospital, Riyadh, over a 10-year period. Of these, 27 (90%) were genetic females (20 were 21-and seven were 11-hydroxylase deficient) and three (10%) were genetic males (two partial androgen insensitive and one 5α-reductase deficient). All genetic males who were incorrectly assigned as females accepted reassignment. But 9 out of 27 (33%) of the genetic females who were incorrectly assigned as males refused reassignment. Preference for male sex assignment, delayed diagnosis and sociocultural circumstances seem to be the contributing factors for refusal. A national consensus about this important issue strengthened by the existing religious recommendations is demanded. Ambiguous genitalia are a social and medical emergency.1,2 Sex assignment of the newborn is usually based on the external genitalia. If this is abnormal, it may be difficult to correctly assign the sex. An incorrect decision can lead to a major dilemma for the child, parents and other members of the family, friends and health personnel, who find themselves confused and in a difficult and unimaginable situation.3 In a community where this condition is. not uncommon, 1,4-7 health personnel will continue to face improperly sex-assigned children and young adults at different ages and circumstances. In this study, we retrospectively reviewed 30 cases in which sex reassignment was indicated. We also discuss the present Islamic guidelines regarding this matter and call for an urgent and unified national consensus, based on the basic scientific knowledge available and supported and approved by the existing Islamic recommendations. Material and MethodsThe medical records of 30 cases in whom sex reassignment was indicated, seen at King Khalid University Hospital (KKUH), Riyadh, over a 10-year period starting in September 1984, were analyzed. Genetic sex was based on chromosomal studies done on lymphocytes. Additional tests included genitogram and pelvic ultrasonography. Definitive etiological diagnosis was based on elevated 17 α-hydroxy, progesterone in 21-hydroxylase (P450C21) deficiency, elevated 11-deoxycortisone (compound S) in 11β-hydroxylase (P450C11) deficiency, elevated baseline and human chorionic gonadotropin (HCG) stimulated testosterone (T) to dihydrotestosterone (DHT) ratio in 5α-reductase deficiency and satisfactory penile length response to HCG and T in the presence of normal T/DHT ratio in partial androgen insensitivity (Figure 1). In view of the medical recommendation and the available Islamic guidelines, a final decision for the final diagnosis, outcome and recom...

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“…[1][2][3] Its most common cause is congenital adrenal hyperplasia (CAH) caused by any one of the three inborn errors of steroidogenesis; 21-hydroxylase (the most common), 11β-hydroxylase, and 36-hydroxysteroid dehydrogenase deficiency in genetic female babies. 4 Advances in technology have made possible the prenatal diagnosis of CAH and subsequently, prenatal treatment with dexamethasone given to mothers throughout pregnancy and begun as early as possible has led to the prevention of virilization in at least three-fourths of affected infants.…”

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confidence: 99%

Prevention of Ambiguous Genitalia in Congenital Adrenal Hyperplasia

Herbish

1996

Ann Saudi Med

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Ambiguous genitalia is not an uncommon problem in Saudi Arabia. [1][2][3] Its most common cause is congenital adrenal hyperplasia (CAH) caused by any one of the three inborn errors of steroidogenesis; 21-hydroxylase (the most common), 11β-hydroxylase, and 36-hydroxysteroid dehydrogenase deficiency in genetic female babies. 4 Advances in technology have made possible the prenatal diagnosis of CAH and subsequently, prenatal treatment with dexamethasone given to mothers throughout pregnancy and begun as early as possible has led to the prevention of virilization in at least three-fourths of affected infants. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] In this article, prenatal dexamethasone therapy was given to a Saudi mother of children with CAH due to 21-hydroxylase deficiency. This has prevented ambiguity in the second daughter. This is believed to be the first published local experience of this mode of prevention therapy. Case ReportA two-month-old male of a first-degree consanguineous couple presented with a history of recurrent vomiting and diarrhea and failure to thrive. He was found to have dehydration, hyponatremia, and hyperkalemia, and subsequently was diagnosed to have congenital adrenal hyperplasia due to 21-hydroxylase deficiency. He was therefore treated with hydrocortisone and 9-α -fluorocortisone. At the age of two years he was referred to the pediatric endocrine clinic at King Khalid University Hospital (KKUH), as per the wish of the family. Follow-up care was done and the parents were counseled.The mother then gave birth to her second infant, who has ambiguous genitalia ( Figure 1) and was immediately referred to KKUH for further management. She soon presented with hyponatremia and hyperkalemia. Appropriate replacement therapy was begun as explained above, with the addition of sodium chloride. Her chromosome analysis showed female karyotype (46,XX). Pelvic ultrasonography was not conclusive, but the genitogram showed female urethra. However, it had failed to visualize the uterus and the fallopian tubes. The 17-hydroxyprogesterone level was greater than 250 ng/mL (N = 0.21-1.4), androstendione level was 7.21 ng/mL (N=0.6-3.4), 11-deoxycorticosterone was 46.3 ng/mL (N=2.0-15), and renin >70 mg/mL/hr (N=0.68-1.38). Hormonal assay was performed in Bioscentia Laboratories (Germany). She then had clitoroplasty (clitoral recession) and vaginoplasty at one year of age, followed by vaginal dilatation at two and at three-and-one-half years of age.Despite some hesitation, after genetic counseling, the parents decided to have a third child. They were also informed at this stage about the preventive value of dexamethasone given to the mother during pregnancy and the very possible side effects which have been reported. At five weeks of gestation, the mother was placed on dexamethasone tablets 0.5 mg twice a day. At 16 weeks of gestation, she was subjected to amniocentesis, where the amniotic fluid chromosomal analysis showed 46,XY male karyotype. Dexamethasone was therefore disconti...

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Congenital Adrenal Hyperplasia

Cited by 12 publications

References 15 publications

Ambiguous genitalia: two decades of experience

Ambiguous genitalia: two decades of experience

Sex Reassignment: A Challenging Problem—Current Medical and Islamic Guidelines

Prevention of Ambiguous Genitalia in Congenital Adrenal Hyperplasia

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