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Complete Androgen Insensitivity Syndrome

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Stuart Taylor

on 20 August 2012

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Transcript of Complete Androgen Insensitivity Syndrome

Complete Androgen
Insensitivity in Males By Stuart Taylor and Sean McKeon Signs Symptoms Treatment /Management HRT Surgery Psychological Amenorrhoea + delayed puberty Lack of Axillary hair? Scanty pubic hair Striking, tall and lean Structural
defects Abnormal
Swelling Primary amenorrhoea as patient has never menstruated.

Differentials of amenorrhoea may be:
Primary ovarian failure
Decrease in gonadotrophin levels May be more likely a sign than a symptom.

Women unlikely to complain that they haven't got hairy armpits. Abnormal swelling of the labia in the female.

Testicular herniation
Inguinal bowel herniation
Irritation or infection In the
Clinic Introduction Scale of disease from mild to complete.
Is present in males with 46 XY genotype.
Is difficult to diagnose because of the lack of symptoms. Sometimes abnormal characteristics due to hormonal genetic differences. Absence of female internal duct system which includes the uterus, ovaries and fallopian tube.
'Short' vagina 2" in depth compared to 3 to 4" and is blind ended.
Presence of testes located in the abdomen. Mullerian Agenesis-MRKH (cc) photo by theaucitron on Flickr Differential Diagnosis Tree Branches Symptom Amenorrhoea and
delayed puberty Genetically female.
Presents with primary amenorrhoea like CAIS and also normal external female genitalia.
Normal secondary sexual characteristics.
Genetic condition which causes the agenesis of the mullerian ducts. Swyer Syndrome Occurs in genetic males.
Other name for condition is 'Pure gonadal dysgenesis'.
Patients typically have normal external genitalia and Mullerian ducts.
Gonads are defective and cannot produce oestrogens which is only detected at puberty. Congenital Adrenal Hyperplasia Most commonly caused by 21-hydroxylase deficiency.
Milder cases may present later in life with primary amenorrhoea.
Unlikely due to presence of other hormonal imbalances that would be noticeable. References 1. Gottlieb B, Beitel LK, Trifiro MA. Androgen Insensitivity Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA)1993.

2. Holmes-Walker DJ, Conway GS, Honour JW, Rumsby G, Jacobs HS. Menstrual disturbance and hypersecretion of progesterone in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical endocrinology. 1995;43(3):291-6. Epub 1995/09/01.

3. Hughes IA, Deeb A. Androgen resistance. Best practice & research Clinical endocrinology & metabolism. 2006;20(4):577-98. Epub 2006/12/13.

4. Kumar P, Clarks M. Kumar & Clark’s Clinical Medicine. Seventh ed. Edinburgh: Elsevier; 2009. p 1360. pg. 1014

5. Mallin SR. Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries. Annals of internal medicine. 1969;70(1):69-75. Epub 1969/01/01.
6. Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG : an international journal of obstetrics and gynaecology. 2008;115(6):737-41. Epub 2008/04/16.

7. Morcel K, Camborieux L, Guerrier D. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Orphanet journal of rare diseases. 2007;2:13. Epub 2007/03/16.

8. Mustafa R, Hashmi HA, Baqai Z. Complete androgen insensitivity syndrome in an X Y female. Journal of the College of Physicians and Surgeons--Pakistan : JCPSP. 2006;16(8):563. Epub 2006/08/11.

9. Okada T, Sasaki S, Honda S, Miyagi H, Minato M, Todo S. Irreducible indirect inguinal hernia containing uterus, ovaries, and Fallopian tubes. Hernia : the journal of hernias and abdominal wall surgery. 2011. Epub 2011/01/08. How is the condition diagnosed? Analysis of the following may occur:
Karyotype test or fluorescent in situ hybridization

Levels of testosterone and
dihydrotestosterone (DHT)

Mutation analysis of the
androgen receptor gene What happens after diagnosis-Treatment options HRT- hormone replacement therapy: CAIS= oestrogen replacement, initial low dose, progesterone if appropriate, PAIS= same treatment if female identity, if male DHT may be administered.

Psychological support- most important aspect from patient’s perspective. Parental support and genetic counselling can also be given. Primary care practitioner or pediatric endocrinologist can coordinate care as part of multi-disciplinary team. Types of Androgen Insensitivity Syndrome- and why there are different types Complete androgen insensitivity syndrome (CAIS): typical female external genitalia present
Partial androgen insensitivity syndrome (PAIS): predominantly female, predominantly male or ambiguous external genitalia
Mild androgen insensitivity syndrome (MAIS): typical male external genitalia Surgery- usually gonadectomy/orchidectomy (uncertainty over best timing), vaginal lengthening procedures, cosmetic genital reconstructive surgery.

Fig. 1. Schematic representation of a grading scheme for clinical classification of AIS. Grades are numbered I through 7 in order of increasing severity (more defective masculinization). Grade 1: normal masculinization in utero; grade 2: male phenotype with mild defect in masculinization (e.g., isolated hypospadias); grade 3: male phenotype with severe defect in masculinization—small penis, perineoscrotal hypospadias, bifid scrotum or cryptorchidism; grade 4: severe genital ambiguity— clitoral-like phallus, labioscrotal folds, single perineal orifice; grade 5: female phenotype with posterior labial fusion and clitoromegaly; grade 6/7: female phenotype (grade 6 if pubic hair present in adulthood, grade 7 if no pubic hair in adulthood). (Adapted from Quigley CA, DeBellis A, Marschke KB, El-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocrine Rev 1995; 1 6(3):282; with permission.)
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