Phenotypic manifestations of endocrine disorders
General examination of the patient provides essential information for determining the level of the regulatory system lesion. Each level has specific markers.
- Hypothalamic-pituitary level: Characterized by pronounced metabolic shifts. Specific obesity is observed (fat "apron" on the abdomen and shoulder girdle) or, conversely, body weight deficit up to 25%. The face acquires a "moon-like" appearance with a crimson-red tint. Striae appear on the skin, along with hyperpigmentation in folds and on the elbows, and dryness with a marbled vascular pattern. The mammary glands are hypoplastic.
- Adrenal level: Obesity is untypical. An "athletic" body type is formed (broad shoulders, narrow pelvis). Signs of virilization are present: hirsutism, alopecia, androgenic dermatopathy (acne, oily skin).
Late-onset forms of congenital adrenal hyperplasia (CAH)
Postpubertal CAH manifests after menarche, which is due to the activation of the hypothalamic-pituitary-ovarian-adrenal axis. Virilization is of a "mild" nature.
Key clinical signs:
- Menstrual function: late onset of menarche (15–16 years), tendency toward oligomenorrhea, high risk of early spontaneous miscarriages.
- Hirsutism: hair growth along the linea alba of the abdomen, on the thighs, and above the upper lip (less pronounced than in the classic form).
- Skin: porous, prone to multiple acne lesions and hyperpigmentation.
To confirm the diagnosis, a dexamethasone suppression test is performed. A decrease in DHEA and DHEA-S levels after the inhibition of ACTH secretion proves the adrenal origin of hyperandrogenism. Ovarian ultrasound reveals a picture of chronic anovulation.
Principles of hyperandrogenism therapy
Management tactics depend on the patient's reproductive plans.
When planning pregnancy: The mainstay of treatment is glucocorticosteroids (dexamethasone). The dose is titrated individually until DHEA levels normalize. Ovulation induction is required for conception (from the 5th to the 9th day of the cycle). Upon successful fertilization, glucocorticoid administration is not discontinued to avoid pregnancy loss.
In the absence of pregnancy plans (cosmetic goal):
- Combined oral contraceptives (COCs): medications with an antiandrogen effect (e.g., Diane-35 for a 4–6 month course).
- Enhanced regimen: COCs combined with cyproterone in the first phase of the cycle.
- Spironolactone: blocks the transformation of testosterone into active dihydrotestosterone in target tissues. Reduces testosterone levels by 80% over half a year.
Impact of thyroid pathology on the cycle
Thyroid dysfunction is often masked as vegetative-vascular dystonia or amenorrhea of unclear origin.
- Hypothyroidism: Thyroid hormone deficiency causes compensatory thyrotroph hyperplasia and an increase in TSH. This suppresses LH synthesis while increasing the FSH/LH ratio. The outcome ranges from luteal phase defect in mild forms to persistent amenorrhea and ovarian degeneration in severe forms.
- Hyperthyroidism: A high basal LH level blocks the ovulatory hormone surge. Anovulation develops. Prolonged thyrotoxicosis leads to fibrous mastopathy and a decrease in uterine size.
For differential diagnosis of phenotypes, remember the "weight" rule: in adrenal hyperandrogenism (CAH), body weight does not increase (patients have an athletic figure), whereas hypothalamic-pituitary disorders are characterized by specific obesity (fat "apron", moon face) or sharp weight loss.
Class and exam questions
How to reliably distinguish adrenal hyperandrogenism from ovarian hyperandrogenism?
The gold standard is the dexamethasone suppression test. If blood DHEA and DHEA-S levels drop after taking the medication, it means the source of excess androgens is in the adrenal cortex.
Why is long-term use of synthetic progestins for hypertrichosis contraindicated in CAH?
Synthetic progestins cause undesirable suppression of pituitary gonadotropin production. In CAH, ovarian function is already suppressed, so such therapy will exacerbate the hormonal imbalance.
Should dexamethasone be discontinued if pregnancy occurs in patients with CAH?
Categorically no. Glucocorticosteroid therapy must be continued, as this is critically important for preventing spontaneous miscarriage in early pregnancy.
What else to study on this topic
- Uterine form of amenorrhea: Asherman's syndrome and intrauterine synechiae.
- Congenital malformations: Mayer-Rokitansky-Küster-Hauser syndrome and false amenorrhea.
- Polycystic ovary syndrome (PCOS): central and mixed forms.
- Indications for genetic testing (karyotyping) in primary amenorrhea.
- Functional diagnostic tests: interpretation of basal body temperature charts.
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