A 14-year-old woman with primary amenorrhoea presented to th | Biochemistry
A 14-year-old woman with primary amenorrhoea presented to the endocrine out-patient clinic. Physical examination revealed hirsutism and clitoromegaly. Some of her biochemistry tests were as follows: Plasma Sodium 132 mmol/L (135–145) Potassium 5.6 mmol/L (3.5–5.0) Urea 3.7 mmol/L (2.5–7.5) Creatinine 101 µmol/L (70–110) 09.00 h cortisol 128 nmol/L (180–720) Thyroid-stimulating hormone 1.5 mU/L (0.20–5.0) Free thyroxine 13.5 pmol/L (12–25) Prolactin 244 mU/L (<470) Luteinizing hormone 5.2 U/L (1–25) Follicle-stimulating hormone 4.3 U/L (1–15) Testosterone 6.2 nmol/L (1–3) Sex-hormone-binding globulin 48 nmol/L (20–90) Oestradiol 464 pmol/L (70–880) 17-Hydroxyprogesterone 85 nmol/L (<35)
a. What is the diagnosis? b.Discuss the results? c. What the cause of your diagnosis?
a. What is the diagnosis? The diagnosis is congenital adrenal hyperplasia.
b.Discuss the results? Note the patient has primary amenorrhoea and hirsutism. The possible cause of hirsutism are: A .congenital adrenal hyperplasia B. Adrenal tumor C. polycystic ovary syndrome
high 17-Hydroxyprogesterone with testosterone suggestive the diagnosis is congenital hyperplasia . Low cortisol and Sodium and high potassium support the diagnosis .
Adrenal tumor is excluded by low cortisol.
polycystic ovary syndrome exclude by the normal of Sex-hormone-binding globulin .
Normal of LH and FSH and Oestradiol exclude primary and secondary hypogonadisms as causes .
Normal of TSH and T4 and Prolactin exclude primary hypothyroidism.
hyponatremia due to hypoaldosternosim hyperkalemia due to hypoaldosternosim elevated 17-OH-progesterone due to gene defect in 21-hydroxylase enzyme. cortisol low due to gene defect in 21-hydroxylase enzyme.
testosterone high due to gene defect in 21-hydroxylase enzyme.
c. What the cause of your diagnosis? The cause of the congenital hyperplasia 21-a-hydroxylase deficiency.
تم تفسير حاله المناقشه السابقه بواسطه الدكتور / حيدر المعمري
