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A 17-year-old boy is brought to the office by his mother because of delayed puberty. The patient is 147 cm (4 ft 10 in) tall and weighs 50 kg (116 lb); BMI is 23 kg/m3. Physical examination shows a lack of facial and body hair, small testes, and poorly developed muscles. The patient speaks with a high voice. Neurologic examination shows anosmia. The results of serum studies are shown: Thyroid-stimulating hormone 2.1 µU/mL (N=0.5-5) Thyroxine (T4) 10 µg/dL (N=5-12) Growth hormone 8 ng/mL (N=1-9) Insulin-like growth factor-1 200 ng/mL (N=113-566) Total testosterone 3.5 nmol/L (N= 10-35) Luteinizing hormone undetectable Genetic testing shows a mutation in the KAL1 gene. The most likely cause of these findings is which of the following defects in the gonadotropin-releasing hormone (GnRH) system? A) Migration of GnRH neurons B) Release of GnRH from vesicles C) Response of pituitary GnRH receptor D) Reuptake of GnRH into GnRH neurons E) Transcription of the GnRH gene

          A 17-year-old boy is brought to the office by his mother because of delayed puberty. The patient is 147 cm (4 ft 10 in) tall and weighs 50 kg (116 lb); BMI is 23 kg/m3. Physical examination shows a lack of facial and body hair, small testes, and poorly developed muscles. The patient speaks with a high voice. Neurologic examination shows anosmia. The results of serum studies are shown: 

Thyroid-stimulating hormone 2.1 µU/mL (N=0.5-5)
Thyroxine (T4) 10 µg/dL (N=5-12)
Growth hormone 8 ng/mL (N=1-9)
Insulin-like growth factor-1 200 ng/mL (N=113-566)
Total testosterone 3.5 nmol/L (N= 10-35)
Luteinizing hormone undetectable

Genetic testing shows a mutation in the KAL1 gene. The most likely cause of these findings is which of the following defects in the gonadotropin-releasing hormone (GnRH) system?
A) Migration of GnRH neurons
B) Release of GnRH from vesicles
C) Response of pituitary GnRH receptor
D) Reuptake of GnRH into GnRH neurons
E) Transcription of the GnRH gene
        
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Biology for AP Courses
Biology for AP Courses
Julianne Zedalis, John Eggebrecht
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A 17-year-old boy is brought to the office by his mother because of delayed puberty. The patient is 147 cm (4 ft 10 in) tall and weighs 50 kg (116 lb); BMI is 23 kg/m3. Physical examination shows a lack of facial and body hair, small testes, and poorly developed muscles. The patient speaks with a high voice. Neurologic examination shows anosmia. The results of serum studies are shown: Thyroid-stimulating hormone 2.1 µU/mL (N=0.5-5) Thyroxine (T4) 10 µg/dL (N=5-12) Growth hormone 8 ng/mL (N=1-9) Insulin-like growth factor-1 200 ng/mL (N=113-566) Total testosterone 3.5 nmol/L (N= 10-35) Luteinizing hormone undetectable Genetic testing shows a mutation in the KAL1 gene. The most likely cause of these findings is which of the following defects in the gonadotropin-releasing hormone (GnRH) system? A) Migration of GnRH neurons B) Release of GnRH from vesicles C) Response of pituitary GnRH receptor D) Reuptake of GnRH into GnRH neurons E) Transcription of the GnRH gene
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00:01 The most likely cause of these findings including delayed puberty, lack of facial and body hair, small testes, poorly developed muscles, high voice, anosmia, and undetectable luteinizing hormone or lh in a patient with a mutation in the cal1 gene is a defect in the migration of gonadotropin releasing hormones or gnrh neurons...
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