QuestionSBA
QuestionChoice
These are features of Kleinfelter’s syndrome, or primary hypogonadism, that is associated with the karyotype 47XXY.
10004647
b
Lack of secondary sexual characteristics, infertility, high LH and FSH, gynaecomastia, tall stature
QuestionChoice
Kallman’s syndrome is an X-linked recessive disorder thought to be due to the failure of migration of GnRH-secreting cells. It causes hypogonadotropic hypogonadism, manifesting as delayed puberty with normal stature, cryptorchidism and anosmia.
10004646
a
Anosmia, delayed puberty, low LH and FSH, low testosterone, cryptorchidism, normal stature
QuestionChoice
These are features of androgen insensitivity syndrome, which is an X-linked recessive condition involving end-organ resistance to testosterone. Genotypically male children with the karyotype 46XY have a female phenotype. The groin swelling is caused by undescended testes.
10004648
c
Groin swelling, amenorrhoea, absent pubic and armpit hair, high LH and FSH, high testosterone
QuestionChoice
These are characteristic features of Prader-Willi syndrome. This is caused by the deletion of the Prader-Will gene inherited from the individual's father (if the deletion is inherited from the mother, this causes a different disorder, Angelman syndrome).
10004649
d
Hypotonia, short stature, infertility, learning difficulties, childhood obesity
QuestionChoice
These are characteristic features of Turner’s syndrome. This is a genetic disorder caused by either the deletion of a whole X-chromosome or deletion of its short arm, causing the karyotype 45X.
10004650
e
Webbed neck, amenorrhoea, renal and cardiac abnormalities, high FSH and LH, short stature
Concept
Chapter
2693
4312
Delayed puberty
Topic
133
Endocrinology
13476
Which of the following describes the most likely set of clinical features in a patient with Kallman’s syndrome?
a