A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirme as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but a other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.

A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirme as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but a other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.

Human Biology (MindTap Course List)

11th Edition

ISBN:9781305112100

Author:Cecie Starr, Beverly McMillan

Publisher:Cecie Starr, Beverly McMillan

Chapter16: Reproductive Systems

Section: Chapter Questions

Problem 3CT: Premenstrual syndrome (PMS) can include mood swings, fluid retention (edema), anxiety, backache and...

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A 26-year-old female complained of severe, dull, aching pain, and cramping in the lower abdomen. There were no other physical findings. A laparoscopy revealed the presence of ectopic endometrial tissue on the uterine wall and ovaries. Danazol (a synthetic androgen and inhibitor of gonadotropins), 600 mg/day, was prescribed for up to nine months to inhibit ovulation, suppress the growth of the abnormal endometrial tissue, and achieve appreciable symptomatic relief, with a 30% possibility of conception after withdrawal of the therapy. Top of Form 1a. What is this condition called? 1b. What causes it?
A 26-year-old female complained of severe, dull, aching pain, and cramping in the lower abdomen. There were no other physical findings. A laparoscopy revealed the presence of ectopic endometrial tissue on the uterine wall and ovaries. Danazol (a synthetic androgen and inhibitor of gonadotropins), 600 mg/day, was prescribed for up to nine months to inhibit ovulation, suppress the growth of the abnormal endometrial tissue, and achieve appreciable symptomatic relief, with a 30% possibility of conception after withdrawal of the therapy. Compare the hormonal controls of the male reproductive cycle with the hormonal controls of the female reproductive cycle. How are they the same? How are they different?
A 26-year-old female complained of severe, dull, aching pain, and cramping in the lower abdomen. There were no other physical findings. A laparoscopy revealed the presence of ectopic endometrial tissue on the uterine wall and ovaries. Danazol (a synthetic androgen and inhibitor of gonadotropins), 600 mg/day, was prescribed for up to nine months to inhibit ovulation, suppress the growth of the abnormal endometrial tissue, and achieve appreciable symptomatic relief, with a 30% possibility of conception after withdrawal of the therapy. Top of Form 1a. What is this condition called?
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