Hearing about the diagnosis

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The following account is based on semi-structured discussions with the six individual hospital endocrinologists and one gynaecologist with whom I work. Girls are referred to the paediatric endocrinologist with symptoms such as puffy hands or feet in infancy, short stature in childhood, or delay in signs of puberty in teen years. The degree of focus on fertility in the initial appointments depends on the reason for the referral, the age at diagnosis, and whether or not there are other serious health features that need immediate treatment. In childhood, the medical focus is usually growth hormone treatment through daily injections to increase height, which is monitored by measurement of linear growth every three months. The mean untreated Caucasian adult height is 143-147 cm, approximately 4 ft 9 in (Elsheikh et al. 2002). With treatment many girls grow to a height in the low normal range. From around the age of puberty, the medical focus turns to the use of sex hormone replacement therapy (HRT) to induce secondary sex characteristics including breast development, and regular checks continue.

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