Atencion primaria · 1995
[Partial deficiency of 21-hydroxylase: a cause of hirsutism].
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Campos López-Carrión M, Caeiro Castelao J
Аннотация
OBJECTIVES: Presentation of two clinical cases of partial deficiency in hydroxylase 21 (PD in H21), examination of their clinical characteristics and discussion on the value of diagnostic hormonal determinations.
SETTING: Narón health centre, La Coruña.
PATIENTS: Two clinical cases who attended our centre in 1991 and 1992 because of the appearance of facial hair and facial acne, respectively.
MEASUREMENTS AND MAIN RESULTS: Basal determinations of cortisol, dehydroepiandrosterone sulphate (DHEA-S), 4-androstendion (A), 17-hydroxyprogesterone (17-HP), free testosterone (T-1), LH and FSH were performed. The first four were then also determined after an injection of 0.25 mg of ACTH. According to the findings, the first case was a clear PD in H21, whereas the second was a light form of the disorder.
CONCLUSIONS: PD in H21 accounts for a considerable percentage of patients who attend because of hirsutism. For its diagnosis it is advisable to perform a stimulation test with ACTH and then obtain the 17-HP levels, along with the increment, 30 minutes after the injection. The levels should be triple that of the values for normal women.
SETTING: Narón health centre, La Coruña.
PATIENTS: Two clinical cases who attended our centre in 1991 and 1992 because of the appearance of facial hair and facial acne, respectively.
MEASUREMENTS AND MAIN RESULTS: Basal determinations of cortisol, dehydroepiandrosterone sulphate (DHEA-S), 4-androstendion (A), 17-hydroxyprogesterone (17-HP), free testosterone (T-1), LH and FSH were performed. The first four were then also determined after an injection of 0.25 mg of ACTH. According to the findings, the first case was a clear PD in H21, whereas the second was a light form of the disorder.
CONCLUSIONS: PD in H21 accounts for a considerable percentage of patients who attend because of hirsutism. For its diagnosis it is advisable to perform a stimulation test with ACTH and then obtain the 17-HP levels, along with the increment, 30 minutes after the injection. The levels should be triple that of the values for normal women.