Kalman syndrome

This article discusses one of the forms of hypotonadotropic ovarian hypofunction - Kallmann syndrome.

Hypogonadotropic amenorrhea of hypothalamic genesis develops against the background of congenital or acquired deficiency of GnRH synthesis by the hypothalamus, pituitary insufficiency has a mixed hypothalamic-pituitary genesis, and is the leading symptom of hypogonadotropic hypogonadism.

Hypogonadotropic amenorrhea of pituitary genesis may develop as a result of acquired gonadotropin deficiency as a consequence of surgery, trauma, hemorrhage, neuroinfection, intoxication, infectious lesion. In clinical practice, doctors most often encounter pathological conditions such as the syndrome of the "empty" sella turcica, Sheehan's syndrome, the latter develops as a result of necrotic changes in the pituitary gland, occurring in its anterior lobe after bleeding or bacterial shock during childbirth and abortions.

[ 1 ], [ 2 ], [ 3 ]

Epidemiology

Kallmann syndrome (olfactogenital dysplasia) occurs in women with a frequency of 1:50,000.

[ 4 ], [ 5 ], [ 6 ]

What causes Kallmann syndrome?

Congenital GnRH deficiency - Kallmann syndrome (olfactogenital dysplasia) - a developmental disorder of the hypothalamus, manifested by a deficiency of GnRH and, as a consequence, gonadotropins. An accompanying symptom of the disease is a disorder of the sense of smell - hypoosmia or anosmia due to partial or complete agenesis of the olfactory bulbs.

How does Kallmann syndrome manifest itself?

In addition to hypoosmia, primary amenorrhea is observed and, as a consequence, primary infertility. The body type is eunuchoid, moderate development of the mammary glands is rarely observed. During gynecological examination, the external genitalia are hypoplastic, there is no development of secondary sexual characteristics, the uterus and ovaries are slightly reduced, which indicates sexual infantilism.

How to recognize Kallmann syndrome?

Hormonal testing reveals low levels of LH, FSH and estradiol, and normal levels of prolactin

Diagnostic criteria for Kallmann syndrome:

• hypogonadotropic hypogonadism;
• anosmia/hyposmia;
• olfactory bulb atrophy determined by MRI;
• positive test with GnRH agonist.

Differential diagnosis

Differential diagnosis is carried out with other forms of hypogonadotropic ovarian hypofunction.

[ 7 ], [ 8 ], [ 9 ], [ 10 ], [ 11 ], [ 12 ], [ 13 ], [ 14 ], [ 15 ], [ 16 ], [ 17 ]

Treatment

Hormone replacement therapy is indicated.

Fertility restoration is carried out using gonadotropins and GnRH agonists:

Menotropins intramuscularly at the same time 75-150 IU. 1 time per day from the 3rd day of the menstrual cycle until the dominant follicle reaches a diameter of 18 mm or Follitropin alpha subcutaneously at the same time 75-150 IU 1 time per day from the 3rd day of the menstrual cycle until the dominant follicle reaches a diameter of 18 mm

+ (after completing the course)

Human chorionic gonadotropin intramuscularly 10,000 IU once.

If LH > 15 IU/L:

Triptorelin intramuscularly 3.75 mg once on the 21st day of the menstrual cycle

+ (after completing the course)

Follitropin alpha subcutaneously at the same time 75-150 ME 1 time per day from the 3rd day of the menstrual cycle until the dominant follicle reaches a diameter of 18 mm

+ (after completing the course)

Chorionic ganadotropin intramuscularly 5000-10 000 IU once. The adequacy of the dose of menotropins and follitropin alpha is assessed by the dynamics of follicle growth (normally 2 mm/day). With slow follicle growth, the dose is increased by 75 IU, with too rapid growth, it is reduced by 75 IU.

Evaluation of treatment effectiveness

The effectiveness of treatment is assessed by the development of menstrual-like bleeding and restoration of fertility.

[ 18 ], [ 19 ], [ 20 ], [ 21 ], [ 22 ], [ 23 ], [ 24 ], [ 25 ]