# Kallmann Syndrome in a 30‐Year‐Old Female With Primary Infertility: A Case Report

## TL;DR

A 30-year-old woman with Kallmann Syndrome and infertility was diagnosed after repeated hormonal treatments delayed the identification of her condition.

## Contribution

This case highlights the delayed diagnosis of Kallmann Syndrome due to repeated use of hormonal contraceptives and emphasizes fertility treatment options.

## Key findings

- The patient had low FSH, LH, and estrogen levels, along with olfactory bulb aplasia, confirming Kallmann Syndrome.
- Repeated use of E-P pills masked the true cause of amenorrhea, delaying diagnosis.
- Fertility treatments like gonadotropin stimulation are viable options for women with Kallmann Syndrome.

## Abstract

Kallmann syndrome (KS) is a rare genetic disorder characterized by hypogonadotropic hypogonadism and anosmia. This case report highlights a 30‐year‐old woman with KS who presented with secondary amenorrhea and uterine hypoplasia after repeated use of combined oral contraceptives (COCs). She had a 5‐year history of primary infertility, hyposmia, and primary amenorrhea. Initially, it was unclear whether her amenorrhea was primary or secondary. However, after interviewing her mother, it was determined that she had primary amenorrhea. Physical examination showed a normal female appearance, with Tanner Stage T1 for pubic hair and T3 for breasts, possibly due to obesity. Hormonal tests revealed low levels of FSH, LH, and estrogen. An MRI of the head demonstrated olfactory bulb aplasia, supporting the clinical diagnosis of KS. Karyotyping confirmed a 46,XX chromosome pattern. The diagnosis of KS was established, and the patient was referred for fertility counseling and ovarian stimulation. KS is typically diagnosed during puberty due to primary amenorrhea, and distinguishing it from other genetic disorders requires karyotyping. This patient′s condition was exacerbated by the repeated use of E‐P pills, which delayed proper diagnosis. Fertility treatment options, including ovarian stimulation with gonadotropins and ovulation induction, were recommended to help the patient conceive. This report emphasizes the importance of careful consideration before administering repeated hormonal treatments and underscores the potential for fertility treatments in females with KS. It highlights the need for clinicians to be vigilant in diagnosing and managing KS, especially in patients with hypogonadotropic hypogonadism and anosmia.