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Diagnosis and Treatment > Signs and Symptoms

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Taieb Ach Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Hela Marmouch Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Dorra Elguiche Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Asma Achour Departments of Internal Medicine and Endocrinology and Radiology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Hajer Marzouk Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Hanene Sayadi Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Ines Khochtali Departments of Internal Medicine and Endocrinology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Mondher Golli Departments of Internal Medicine and Endocrinology and Radiology, University Hospital Fattouma Bourguiba Monastir, Monastir, Tunisia

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Summary

Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism in combination with a defect in sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report a case of a 17-year-old Tunisian male who presented with eunuchoid body proportions, absence of facial, axillary and pubic hair, micropenis and surgically corrected cryptorchidism. Associated findings included anosmia. Karyotype was 46XY and hormonal measurement hypogonadotropic hypogonadism. MRI of the brain showed bilateral agenesis of the olfactory bulbs and 3.5 mm pituitary microadenoma. Hormonal assays showed no evidence of pituitary hypersecretion.

Learning points:

  • The main clinical characteristics of KS include hypogonadotropic hypogonadism and anosmia or hyposmia.

  • MRI, as a non-irradiating technique, should be the first radiological step for investigating the pituitary gland as well as abnormalities of the ethmoid, olfactory bulbs and tracts in KS.

  • KS may include anterior pituitary hypoplasia or an empty sella syndrome. The originality of our case is that a microadenoma also may be encountered in KS. Hormonal assessment indicated the microadenoma was non-functioning. This emphasizes the importance of visualizing the pituitary region in KS patients to assess for hypoplastic pituitary malformations or adenomas.

Taxonomy:
Clinical Overview, Gland/Organ, Pituitary, Topic, Pituitary, Hormone, LH, Testosterone, Condition/ Syndrome, Cryptorchidism, Gynaecomastia, Hypogonadotrophic hypogonadism, Kallmann syndrome, Microadenoma, Pituitary adenoma, Puberty (delayed or absent), Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, White, Country of Treatment, Tunisia, Diagnosis and Treatment, Signs and Symptoms, Anosmia, Cognitive problems, Cryptorchidism, Delayed puberty, Gynaecomastia, Hypogonadism, Micropenis, Investigation, Chromosomal analysis, HCG stimulation, LH, MRI, Testosterone, Ultrasound scan, Medication, Testosterone, Related Disciplines, Genetics, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-18-0027
Volume/Issue:
Volume 2018: Issue 1
Open access