QuestionSBA
QuestionChoice
Turner’s syndrome is caused by the deletion of a whole X-chromosome, or deletion of its short arm, causing the karyotype 45X. Features of Turner’s syndrome include a webbed neck, short stature, amenorrhoea, renal and cardiac abnormalities and a high FSH and LH.
10027123
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Turner's syndrome
QuestionChoice
Androgen insensitivity syndrome is an X-linked recessive condition involving end-organ resistance to testosterone, which manifests as genetically male children (46XY karyotype) having a female phenotype. Groin swelling due to undescended testes, amenorrhoea, absence of body hair, high FSH and LH and high testosterone levels are seen.
10027125
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Androgen insensitivity syndrome
QuestionChoice
Kleinfelter’s syndrome, or primary hypogonadism, is associated with the karyotype 47XXY. Lack of secondary sexual characteristics such as facial, pubic and armpit hair, small testicles and infertility are key features. Other physical features such as gynaecomastia (enlargement of the breasts) and a tall stature may be present. High FSH and LH with low testosterone are also classical findings in Klinefelter’s syndrome.
10027121
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Klinefelter's syndrome
QuestionChoice
Deletion of the Prader-Willi gene inherited from the father results in Prader-Willi syndrome, which is characterised by childhood obesity, learning difficulties, hypotonia, short stature and infertility.
10027122
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Prader-Willi syndrome
QuestionChoice
Kallman’s syndrome, or hypogonadotropic hypogonadism, is an X-linked recessive disorder, believed to occur due to the failure of GnRH-secreting cells to migrate. Features of Kallman’s syndrome include delayed puberty with normal stature, anosmia, and cryptorchidism (failure of testes descent). Typical blood test findings in Kallman’s syndrome are low testosterone with a high FSH and LH.
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Kallman's syndrome
Concept
Chapter
2693
4312
Delayed puberty
Topic
133
Endocrinology
17822
A 19-year-old male has a telephone consultation with his GP to discuss concerns about his lack of facial, pubic and armpit hair. He is also concerned about his testicles being too small, which is affecting his self-esteem. During a face-to-face follow-up appointment, he is seen to have a tall stature and gynaecomastia. Blood tests show a high FSH and LH and a low testosterone.

What is the most likely underlying diagnosis?
a