Kallmann syndrome in the practice of an obstetrician-gynecologist

Rumyantseva Z.S.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-1711-021X

Sulima A.N.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-2671-6985

Miklin O.P.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-4863-602X

Gudz O.V.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-4881-6792

Yermachkova P.A.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-8782-4007

Kallmann syndrome in the practice of an obstetrician-gynecologist

Authors:

Rumyantseva Z.S., Sulima A.N., Miklin O.P., Gudz O.V., Yermachkova P.A.

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Journal: Russian Journal of Human Reproduction. 2024;30(4): 106‑111

DOI: 10.17116/repro202430041106

Read: 814 times

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To cite this article:

Rumyantseva ZS, Sulima AN, Miklin OP, Gudz OV, Yermachkova PA. Kallmann syndrome in the practice of an obstetrician-gynecologist. Russian Journal of Human Reproduction. 2024;30(4):106‑111. (In Russ.)
https://doi.org/10.17116/repro202430041106

Подписка 2025-2 (Russian Journal of Human Reproduction)

Использование инфографики авторами научных работ

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Kallmann syndrome is a rare, genetically determined combination of gonadotropin-releasing hormone deficiency and hypo- and anosmia. It is reported to occur in 1:10.000 men and 1:50.000 women. The main genes in which mutations in KS are found are KAL1, NSMF, WDR11, GNRHR, and others. In addition to disorders of sexual development and olfaction, KS can manifest as agenesis of the kidneys, teeth, polydactyly, scoliosis, and lesions of the nervous system. Treatment of KS in women includes the use of estrogen-progestin therapy to induce and maintain the development of secondary sexual characteristics and gonadotropin therapy to ensure fertility. In this paper we describe a case of diagnostics and treatment of a 20-year-old female patient, who had been trying to find the cause of her condition for a long time without success before coming to our clinic.

Keywords:

Kallmann syndrome

case report

anosmia

hypogonadotropic hypogonadism

gonadotropin-releasing hormone

Authors:

Rumyantseva Z.S.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-1711-021X

Sulima A.N.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-2671-6985

Miklin O.P.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-4863-602X

Gudz O.V.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-4881-6792

Yermachkova P.A.

Crimean Federal University named after V.I. Vernadsky

ORCID: 0000-0002-8782-4007

Received:

20.06.2023

Accepted:

08.09.2023

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