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A case series of XY females in the first Malaysian PAG clinic
NurZaireena Z.,* Amelia A.Z., *NurAzurah A.G., ***S. R. Grover, **Suraya Aziz,* Sharul Rizal Samsury, * Z. A. Mahdy
*Department of O & G, **Department of Radiology, UKMMC, Kuala Lumpur, Malaysia; ***Department of Paediatric and Adolescent Gynaecology, Royal Childrens’ Hospital
Melbourne, Australia
Introduction
 XY females are one of the main group under the disorder of
sexual development (DSD), or previously known as intersex
condition.1
 They may present with incomplete masculinized external
genitalia, ambiguous genitalia or even a complete female
external genitalia with an XY chromosome.
 This can be due to disorders of testicular development or
disorders in androgen synthesis.2 Abnormal gene
expression in the cascade of testis determination or
development leads to 46, XY DSD which includes (complete
or partial gonadal dysgenesis, with or without syndromic
phenotype, ovotesticular DSD and testicular regression
syndrome).
Objectives & Methods
Objectives:
To report a case series of XY females referred to the first
Paediatric and Adolescent Gynaecology (PAG) Clinic
in
Malaysia and the challenges in making accurate diagnosis.
Methods:
All cases of XY females referred and managed in the first two
years of the PAG clinic, UKMMC were included since 2008.
Clinical presentations, investigation results, treatment given
and outcome are described.
Figure 1 : Arrow shows streak
gonad seen laparoscopically in
Case 5.
Figure 2 : Arrow shows uterus
seen laparoscopically before
hormonal treatment in case 5
Fig 3 and 4 (case 3) (Fig3) Sagittal T1WI showing a small uterus (white
arrows) of prepubertalage with presence of vagina,normally placed posterior
to the bladder (block arrow). Both ovaries are not identified. (Fig4) Coronal
T2WI depicted a hypointense oval structure (thick arrow) in the left hemipelvis
which most likely represent intra-abdominal testis.
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Conclusions
Results
Preliminary information
Initial diagnosis
Further information
Final revised
diagnosis
Case 1: XY karyotype with phenotypic female
 Inguinal masses noted at 3yo
 Gonadectomy  testes(but no HPE available)
 Commenced low dose oestrogen at 12yo
Complete Androgen
Insensitivity
Syndrome (CAIS)
 Repeat usg after oestrogen CAIS
no uterus present.
 Scanty pubic and axillary
hair
Case 2: Primary amenorrhoea at 24yo.
 Minimal medical contact.
 No secondary sexual characteristics ( 3 sisters all
menstruating).
 BMI 18; No axillary hair, normal external genitalia,
vagina 1cm blind ending.
 MRI- vagina, cervix seen with rudimentary
uterus.
 No ovaries seen. USG - reported rudimentary
uterus
Complete Androgen
Insensitivity
Syndrome (CAIS)
 No hormonal results
available.
 Gonadectomy planned –
but patient postponed.
 Planned commencement of
oestrogen for pubertal
development.
 Poor breast development
may be secondary to being
underweight
Case 3: primary amenorrhoea at 18. No secondary
sexual characteristics . Is sexually active.
Examination: breasts Tanner 2, normal female non
oestrogenised external genitalia
 LH 31.3 (), FSH 2.3; oestradiol 40 ().
 MRI-left testes identified, right side not
identified, prepubertal uterus.
Laparoscopy:bilateral gonadectomy performed
Androgen
Insensitivity
Syndrome (AIS)
 Following oestrogen usage 46XY gonadal
 uterus identified,
dysgenesis
development of pubic and
axillary hair.
 now menstruating.
Progestogens now used
cyclically
Case 4: First seen at 3yo with developmental delay,
and dysmorphic features.
 Karyotype 46XY. SRY gene present.Gonadectomy
at 5yo. No HPE available. No uterus identified.
46 mixed gonadal
dysgenesis
(in view of the absent
uterus)
However with ERT – now
menstruating. Added cyclic
progestogens.
46XY Gonadal
Dysgenesis
Case 5: primary amenorhoea at 18, No secondary
sexual characteristics, normal female genitalia.
MRI no uterus or ovaries.
Laparoscopy with gonadectomy, no uterus seen.
HPE – streak gonads.
46 XY Gonadal
Dysgenesis – but
inconsistent with
finding of no uterus
After oestrogen therapy –
menstruated. Now using
cyclic progestogens
46XY Gonadal
Dysgenesis
Case 6 : Ambiguous genitalia (younger sister of case 46XY partial gonadal
5). U/s: rudimentary uterus 3.2 x2.0cm
dysgenesis
 Chromosomal study: 46 XY, SRY gene positive
 bilateral gonadectomy at 4 years old
Started on estrogen therapy
46, XY Partial
Gonadal Dysgenesis
True hermaphrodite
Case 7: Normal female genitalia at birth. Presented
with right inguinal swelling and clitoromegaly and
labioscrotal at 11yo
 Gonadectomy done. Intraoperative : no uterus nor
ovaries . Blunt vaginal opening.
 Karyotyping done noted 46xx/46xy.
Absent uterus , confirmed by
ultrasound scan and never
menstruated . On estrogen
since age 13.
46XY/46XX mixed
gonadal dysgenesis
Probable CAIS
**presence of a
uterus does not fit
this diagnosis??
46XY gonadal
dysgenesis
1. Risk of malignancy in CAIS is - 1-2 %. Monitor
intraabdominal testes as there is a 2-5% risk of
malignancy. Malignancy risk in the gonad is
determined by the diagnosis3.
- CAIS - risk of malignancy in the intra abdominal testes is 2-5 % ,extra abdominal testes risk is 1%.
- PAIS – risk of malignancy is up to 50%.
- Complete GD – malignancy risk is 30%
2. In CAIS cases, the testes is able to produce
testosterone
which
undergoes
peripheral
aromatisation for breast development. Hence in CAIS
cases, removing them after puberty may allow for their
own breast development whereas removing them
early in childhood
prevents this. Also, early
gonadectomy prevents these patients from giving their
own informed consent , and they will require
commencement of lifelong hormonal replacement
therapy.
3. Beware assessments suggesting an absent uterus in
the context of low oestrogens as the uterus may be
very small and missed on USG, MRI and at laparoscopy
( note case 3 , 4 and 5).
4. Reduced bone density is a risk in these women.
Patients need to be educated on this and make the
necessary lifestyle modifications and supplements and
have regular BMD checks and ensure adequate HRT in
those without endogenous testosterone or oestrogen.
5. Gender identity is not usually an issue in those with
CAIS or 46XYGD.
References
1. Lee PA, Houk CP, Ahmet F, et al. In collaboration
with participants in the international consensus
conference on intersex organized by the Lawson
Wilkins Pediatric Endocrine Society and the
European Society for Pediatric Endocrinology.
Consensus statement on management of intersex
disorders. Pediatrics 2006;118:488-500.
2. Damian D, Paulo S. Disorder of sexual
development: Still a big challenge. J Pediatr
Endocrinol Metab 2007;20:749-50.
3. Minto, Catherine. The XY female. In: Paediatric and
Adolescent
Gynaecology, Adam Balen, Sarah
Creighton, Melanie C. Davies, Jane MacDougall,
Richard Stanhope, eds., pp. 275-292. 2004.
Cambridge University Press, UK.