Dados do Trabalho

Title

An infertile man with Kallmann Syndrome: a case report.

Objective

Kallmann Syndrome (KS) is a congenital association between hypogonadotropic
hypogonadism (HH) and anosmia or hyposmia. It is a rare condition that is clinically
characterized by decreased levels of testosterone, luteinizing hormone, and follicle-
stimulating hormone. Additionally, this genetic disease leads to incomplete sexual
maturation and the absence of secondary sexual features, such as face and body hair
growth. HH is also known as central non-obstructive azoospermia, therefore, Kallmann
Syndrome diagnosed men are considered to be infertile. The main objective of this case
report is to describe the importance of early diagnosis of KS for the best treatment and
advising and treatment of reproductive care.

Methods

A male patient, 39 years old, was referred in 2022 to the Infertility and Human
Reproductive service in Hospital de Clínicas de Porto Alegre (HCPA) due to a male infertility
factor, presenting a spermogram with azoospermia (2021). The patient was diagnosed with
KS in 2012, presenting poorly developed secondary characters, hyposmia, reduced
testicular volumes on ultrasound, and other classic features of HH, such as low libido and
hypothyroidism. In males diagnosed with KS, success in inducing spermatogenesis is
around 90 - 95% with the traditional use of gonadotropins (hCG associated or not with
recombinant FSH). The patient started to use hCG associated with recombinant FSH in
2022, with a good response on hormone profile (01/20/23: Total testosterone: 927; E2 28;
FSH 3,13; LH<0,12), nevertheless with the maintenance of azoospermia on the
spermogram. In this way, the Assisted Reproduction team has indicated microTESE
(microscopic testicular sperm extraction) surgery, which aims to recover sperms in non-
obstructive azoospermia through the extraction of seminiferous tubules visualized under the
microscope. The surgery was performed by our team on 02/10/2023, in both testicles under
visualization with microscopy, with a multidisciplinary team (gynecologist, urologist, and
embryologist).

Results

The surgery performed in February 2023 showed a reduced volume of testicles,
with the right testicle smaller than the left side, as shown by the ultrasound exam. The
microscopy surgery showed a few dilated seminiferous tubules, removed and subsequently
delivered to the embryologists. It was evidenced by immotile spermatozoa in the sample,
which was cryopreserved according to the protocols. A sample from both testicles was also
sent for anatomopathological examination, which showed testicular parenchyma with loss of
maturation in 50% of the seminiferous tubules. The patient has evolved well and without any
complications postoperatively, and is still following up with the human reproductive service in
HCPA.

Conclusion

Although rare in men (1/10.000), Kallmann Syndrome is a congenital genetic
disease that represents a condition with hypogonadotropic hypogonadism (HH) that affects
health and can affect fertility in many ways. This case report describes an adult with a
delayed diagnosis of Kallmann Syndrome associated with male infertility, with an adequate
hormone response for clinical treatment but maintenance of azoospermia in spermogram.
The indication for the microTESE surgery has successfully retrieved sperm and increased
the couples chance of achieving a pregnancy through in vitro fertilization. Therefore, it is
essential that patients with Kallman syndrome are diagnosed early and followed up with
multidisciplinary teams to have better outcomes in reproductive care.

Keywords

Kallmann Syndrome; IVF; hypogonadism; microTESE.