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Updated: May 29, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

[Kallmann syndrome].

A Mokosch¹, C Bernecker, H S Willenberg

¹Hautklinik, Universitätsklinikum Düsseldorf, Düsseldorf.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete

|September 16, 2011

Summary

This summary is machine-generated.

Kallmann syndrome, a rare genetic disorder, causes hypogonadotropic hypogonadism and impaired sense of smell. This case highlights its complex presentation in a young man with delayed sexual maturation and associated symptoms.

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Last Updated: May 29, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Area of Science:

Endocrinology
Genetics
Neuroscience

Background:

Kallmann syndrome is a rare congenital disorder characterized by hypogonadotropic hypogonadism and a diminished or absent sense of smell (hyposmia/anosmia).
It results from gonadotropin-releasing hormone (GnRH) deficiency, leading to impaired sexual maturation and reproductive function.

Observation:

A 19-year-old male presented with delayed sexual maturation, eunuchoid habitus, micropenis, cryptorchidism, and erectile dysfunction.
He also exhibited anemia, osteoporosis, and hyposmia, alongside low serum levels of luteinizing hormone (LH), follicle-stimulating hormone (FSH), and testosterone.

Findings:

The patient's clinical presentation and hormonal profile are consistent with Kallmann syndrome.
The combination of hypogonadism and hyposmia is a hallmark diagnostic feature, distinguishing it from other causes of hypogonadotropic hypogonadism.

Implications:

This case underscores the importance of recognizing the diverse clinical manifestations of Kallmann syndrome.
Early diagnosis and management are crucial for addressing hormonal deficiencies and associated comorbidities, improving patient outcomes.