Endocrine Abstracts

Introduction: 21-hydroxylase deficiency represents 95% of congenital adrenal hyperplasia. The non-classical form manifests in women mainly by hirsutism, menstrual disorders, or infertility. We present three patients’ cases.

Observations: Patient N.C., 17 years old, who presented with hirsutism beginning at the age of 8 years and progressively worsening after puberty. The patient had her menarche at the age of 9 years, with short and irregular menses. Her BMI was at 27 kg/m². Her height was at 166 cm (+1DS), her BP was at 11/8 cm Hg. She had severe hirsutism with a Ferriman-Gallwey score of 35, and she had signs of virilization such as clitoral hypertrophy (Prader 1). Biochemical hyperandrogenism was found with a total testosterone =1.1 ng/ml, S-DHEA=5370 ng/ml, and 4-androstenedione=7 ng/ml. ACTH was high at around 95 pg/ml. Baseline cortisol level was at 220 ng/ml. Baseline 17OH progesterone was 13.6 ng/ml. An abdominal CT scan did not show adrenal hyperplasia. Patient A.F., 18 years old, presented with peripubertal hirsutism. She has a sister with a classic form of congenital adrenal hyperplasia. Her menarche occurred at the age of 12, with irregular menses leading up to a 2-year secondary amenorrhea. On examination, BP was 12/8 cm Hg. Her height was at 152 cm (-1DS), and BMI was at 31 kg/m². She had severe hirsutism with a Ferriman-Gallwey score of 31. She did not show signs of virilization. Total testosterone =0.4 ng/ml, S-DHEA =2650 ng/ml, and 4-androstenedione was high at 6.1 ng/ml. ACTH was at 20 pg/ml. 17O-Progesterone response to standard dose synacthen stimulation test was as follows: T0: 11 ng/ml, T30: 42 ng/ml, and T60: 42 ng/ml. Microcystic ovaries were present on pelvic ultrasound. Patient S.B., 22 years old, who presented with post-pubertal-onset hirsutism and dysmenorrhea She had a family history of diabetes. Her menarche occurred when she was 14 years old. On examination, her BP=11/7, BMI:28 kg/m2, height: 155 cm, Ferriman-Gallwey score: 26, no signs of virilization. Total testosterone: 1.1 ng/ml Baseline 17OH-progesterone level: 34 ng/ml.

Discussion: In the late-onset form of congenital adrenal hyperplasia, the clinical presentation is that of peri- or postpubertal hyperandrogenism. Hirsutism is the most common manifestation. It may be associated with signs of virilization or short stature due to premature closure of the epiphyseal plate. Menstrual disorder and anovulation are related to the permanent production of estrogens due to the aromatization of hypersecreted adrenal androgens. PCOS may be present in some cases.