Australian Doctor 14th June Issue | Page 34

14 JUNE 2024 ausdoc . com . au where the vagina and / or uterus fails to develop . This occurs in one in 4500 females , with 40 % having an associated renal tract anomaly . 42 Sensitive care , acknowledging the significant impact this has on the reproductive health of the young woman , is essential . Most women with MRKH successfully create a vagina with the use of dilators and do not need surgery . Support groups , such as MRKH Australia , provide invaluable support to these young women .

Other complex Müllerian anomalies , including transverse vaginal septa and cervical obstructive anomalies , require expert teams . Suppression of menses to allow time to clarify the anatomy as well as waiting for emotional maturity is usually undertaken .

AIS is identified in young women usually presenting with primary amenorrhoea with minimal pubic and axillary hair . In recent years , the diagnosis has also been made when there is a phenotypic female baby born when a male was expected , or at the time of hernia repair in an infant when the gonads are recognised to be testes rather than ovaries .

Variations in sexual development

Also termed differences of sex development , these umbrella expressions cover a wide range of conditions where the chromosomal , hormonal or anatomical features are atypical .

Figure 9 . A 2cm leftsided ovarian cyst .

Although there is some use of the expression ‘ intersex ’, most people with one of these diagnoses are uncomfortable with this term .

The classifications that are encompassed by the expression ‘ variations in / differences of sexual development include MRKH , AIS , congenital adrenal hyperplasia , Turner syndrome , severe hypospadias , bilateral undescended testes , bladder exstrophy and cloacal exstrophy .

These individuals require the care

As a GP , taking care with language is crucial . Young people report feeling very uncomfortable if they need to explain their diagnosis to a doctor ; if confronted with the situation of caring for someone with a less common variation in sexual development , ask the individual if there is a clinician or website that will help you understand the challenges they are facing .

PAEDIATRIC AND ADOLESCENT GYNAECOLOGY

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CASE STUDY

AMY , 13 , presents to her GP with

James Heilman , MD / CC BY-SA 3.0 / bit . ly / 3LIG0z1 increasingly painful periods . Onset of menarche was age 11 , and over the past year , her periods have become reasonably regular , occurring every 24-26 days and lasting for 6-7 days . Period pain — with associated nausea , vomiting , diarrhoea , generalised aches and lethargy — has progressively worsened over the past year . Amy has been missing school for 1-3 days every month and cannot participate in her usual sports of swimming and netball .

The GP explores the possibility of adverse childhood events that may be contributing to her more significant pain symptoms and does not uncover any concerns .

At this first consult , the GP highlights the advantages of using NSAIDs over paracetamol , stressing the importance of starting the drugs with the earliest symptoms or even before ( if her cycle is regular enough to allow her to predict this ). Querying the heaviness of her loss prompts an FBC and ferritin ; the latter is on the lower limit of normal . On review two months later , despite using a heat pack and NSAIDs regularly with the onset of the first symptoms , Amy is still unable to go to school for 1-3 days during menses .

When the GP raises the possibility of using the contraceptive pill , her mum raises concerns about the potential impact on Amy ’ s height . The GP reassures them that , given Amy ’ s periods have already been present for two years , her end height is already defined , and the hormones will not impact on this . Any concerns about the impact on future health and fertility are allayed .

The GP raises the option of using the pill continuously ( skipping periods ) to ensure Amy has a break from the significant pain and to ensure her ferritin level recovers .

On review three months later , her mood has substantially improved , and she is no longer missing school . Amy asks how long she is allowed to skip her periods , and the GP reassures her that skipping long term is fine as pregnant women go nine months and breastfeeding women can go 1-2 years or longer without a period . They discuss that breakthrough bleeding may occur with a continuous cycling approach and make a plan to follow up if this becomes problematic .