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Normal ovarian function in a mild form of late-onset 3 beta-hydroxysteroid dehydrogenase deficiency.
Fertil Steril. 1986 Dec; 46(6):1021-5.FS

Abstract

Late-onset 3 beta-hydroxysteroid dehydrogenase (HSD) deficiency was diagnosed in a 30-year-old woman with hirsutism and normal menstrual cycles. No genital abnormalities were present. Elevated basal serum levels of delta 5-3 beta-hydroxysteroids were demonstrated. Serum pregnenolone (P5) was 3.0 ng/ml, and dehydroepiandrosterone sulphate (DHEA-S) 3245 ng/ml. Basal serum levels of delta 4 steroids were low or within normal limits. Serum progesterone (P) was 0.5 ng/ml, 17 alpha-hydroxyprogesterone (17-OHP) 0.2 ng/ml, androstenedione (delta 4A) 0.4 ng/ml, and testosterone (T) 0.1 ng/ml. All delta 5/delta 4 steroid ratios were elevated. Dexamethasone (DEX) administration normalized the elevated levels of delta 5-3 beta-hydroxysteroids, whereas delta 4-3-ketometabolites exhibited only minor modifications. The DHEA-S/delta 4A ratio increased more than five times over the basal ratio, and P5/P and 17 alpha-hydroxypregnenolone (17-OHP5)/17-OHP ratios did not increase after adrenocorticotrophic hormone ACTH stimulation. Studies of basal ovarian function revealed 17 beta-estradiol (E2) and gonadotropins within normal limits according to the menstrual cycle. In the follicular phase, follicle-stimulating hormone (FSH) was 101.3 ng/ml, luteinizing hormone (LH) 46.0 ng/ml, and E2 49.7 pg/ml; in the luteal phase, FSH was 180.0 ng/ml, LH 69.3 ng/ml, and E2 50.1 pg/ml. The presence of ovulatory cycles was documented on the basis of the biphasic pattern of the basal body temperature cycles and the increment in P levels. This case demonstrates the existence of normal ovulatory function in a woman with late-onset of a mild form of HSD.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

3023147

Citation

Medina, M, et al. "Normal Ovarian Function in a Mild Form of Late-onset 3 Beta-hydroxysteroid Dehydrogenase Deficiency." Fertility and Sterility, vol. 46, no. 6, 1986, pp. 1021-5.
Medina M, Herrera J, Flores M, et al. Normal ovarian function in a mild form of late-onset 3 beta-hydroxysteroid dehydrogenase deficiency. Fertil Steril. 1986;46(6):1021-5.
Medina, M., Herrera, J., Flores, M., Martin, O., Bermúdez, J. A., & Zárate, A. (1986). Normal ovarian function in a mild form of late-onset 3 beta-hydroxysteroid dehydrogenase deficiency. Fertility and Sterility, 46(6), 1021-5.
Medina M, et al. Normal Ovarian Function in a Mild Form of Late-onset 3 Beta-hydroxysteroid Dehydrogenase Deficiency. Fertil Steril. 1986;46(6):1021-5. PubMed PMID: 3023147.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Normal ovarian function in a mild form of late-onset 3 beta-hydroxysteroid dehydrogenase deficiency. AU - Medina,M, AU - Herrera,J, AU - Flores,M, AU - Martin,O, AU - Bermúdez,J A, AU - Zárate,A, PY - 1986/12/1/pubmed PY - 1986/12/1/medline PY - 1986/12/1/entrez SP - 1021 EP - 5 JF - Fertility and sterility JO - Fertil Steril VL - 46 IS - 6 N2 - Late-onset 3 beta-hydroxysteroid dehydrogenase (HSD) deficiency was diagnosed in a 30-year-old woman with hirsutism and normal menstrual cycles. No genital abnormalities were present. Elevated basal serum levels of delta 5-3 beta-hydroxysteroids were demonstrated. Serum pregnenolone (P5) was 3.0 ng/ml, and dehydroepiandrosterone sulphate (DHEA-S) 3245 ng/ml. Basal serum levels of delta 4 steroids were low or within normal limits. Serum progesterone (P) was 0.5 ng/ml, 17 alpha-hydroxyprogesterone (17-OHP) 0.2 ng/ml, androstenedione (delta 4A) 0.4 ng/ml, and testosterone (T) 0.1 ng/ml. All delta 5/delta 4 steroid ratios were elevated. Dexamethasone (DEX) administration normalized the elevated levels of delta 5-3 beta-hydroxysteroids, whereas delta 4-3-ketometabolites exhibited only minor modifications. The DHEA-S/delta 4A ratio increased more than five times over the basal ratio, and P5/P and 17 alpha-hydroxypregnenolone (17-OHP5)/17-OHP ratios did not increase after adrenocorticotrophic hormone ACTH stimulation. Studies of basal ovarian function revealed 17 beta-estradiol (E2) and gonadotropins within normal limits according to the menstrual cycle. In the follicular phase, follicle-stimulating hormone (FSH) was 101.3 ng/ml, luteinizing hormone (LH) 46.0 ng/ml, and E2 49.7 pg/ml; in the luteal phase, FSH was 180.0 ng/ml, LH 69.3 ng/ml, and E2 50.1 pg/ml. The presence of ovulatory cycles was documented on the basis of the biphasic pattern of the basal body temperature cycles and the increment in P levels. This case demonstrates the existence of normal ovulatory function in a woman with late-onset of a mild form of HSD. SN - 0015-0282 UR - https://www.unboundmedicine.com/medline/citation/3023147/Normal_ovarian_function_in_a_mild_form_of_late_onset_3_beta_hydroxysteroid_dehydrogenase_deficiency_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0015-0282(16)49874-2 DB - PRIME DP - Unbound Medicine ER -