A 17-year-old girl visits the clinic with her mother who is concerned that her daughter had not menstruated yet and her breast had not been significantly developed. She also notes that her daughter is color blind. The girl denies any sexual relationship or using any recreational drugs. Examination reveals normally appearing girl with small non-developed breasts. There is lack of pubic hair and her vagina and cervix are not fully developed. She is 5f5in tall and weighs 130 Ib. Cardiac, chest and abdominal examinations are unremarkable.
What is the most likely initial diagnosis?
A-Androgen insensitivity disorder
B- Early pregnancy
C- Kallmann’s syndrome
D- Kartagener’s syndrome
E- Turner’s syndrome
Answer
This patient has primary amenorrhea, delayed secondary sexual development and color blindness. All these features are characteristic of Kallmann’s syndrome. It is a hereditary disorder of GnRH synthesis. Androgen sensitivity disorder is characterized by the development of breasts and female external genitalia in an XY candidate. This patient has primary amenorrhea and under-developed secondary sexual characteristics which exclude pregnancy. Kartagener’s syndrome characterized by recurrent respiratory tract infections due to lack of cilia and infertility in men due to defective sperm movement. Turner’s syndrome is characterized by amenorrhea and lack of secondary sexual characteristics. It is excluded in this case because it causes dysmorphic body shape and short stature which are not available in this case.
The correct answer is C
Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell. This disorder is a form of hypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development.
Please can you explain why patient with kallman syndrome lacks pubic hair since they have a functioning adrenal gland?
Thank you Dr Mike. Kallmann has both features but some appears and some don’t. You can read more about Kallmann in this link:
https://www.merckmanuals.com/professional/pediatrics/endocrine-disorders-in-children/male-hypogonadism-in-children#v29301904
Thank you so much.
Thought kallmann has anosmia not color blindness