A 14-year-old girl presents to the Paediatric Clinic with her mother, who is worried because her daughter has not started menstruating yet. The girl has always been short of statur... A 14-year-old girl presents to the Paediatric Clinic with her mother, who is worried because her daughter has not started menstruating yet. The girl has always been short of stature and there has been no pubertal growth spurt. Physical examination confirms that the girl has low hairline, prominent and low-set ears and a webbed, short neck. The lower legs are X-shaped and the chest is broad. There is no sign of breast development or other signs of sexual maturation. The mother reports that the adolescent has difficulty focusing on classwork and remembering what she has learned. Height 150 cm (5th percentile). Weighs 65 kg (90th percentile). Which of the following is the most likely diagnosis? A. Constitutional short stature B. Endocrine short stature C. Normal growth stature D. Syndromic short stature
Understand the Problem
The question describes a 14-year-old girl presenting with delayed puberty, short stature, and physical features such as a low hairline, webbed neck, and broad chest. The question asks us to determine the most likely diagnosis based on these clinical findings.
Answer
The final answer is D. Syndromic short stature.
The most likely diagnosis is Syndromic short stature, given the multiple physical abnormalities and lack of puberty.
Answer for screen readers
The most likely diagnosis is Syndromic short stature, given the multiple physical abnormalities and lack of puberty.
More Information
Syndromic short stature is indicated by multiple co-occurring physical abnormalities, such as a low hairline, low-set ears, webbed neck, X-shaped legs, broad chest, and cognitive difficulties, along with a lack of pubertal development.
Tips
It's easy to confuse the types of short stature, paying attention to the specific details in the question will help.
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