A case of Kallmann syndrome associated with a non-functional pituitary microadenoma

Ach, Taïeb; Marmouch, H.; Elguiche, Dorra; Achour, Asma; Marzouk, H.; Sayadi, H.; Khochtali, I.; Golli, M.

doi:10.1530/edm-18-0027

Cited by 4 publications

(4 citation statements)

References 12 publications

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“…The clinical presentation of the patient seems to be consistent in the literature, with the classic association of hypogonadotropic hypogonadism and anosmia [5]. The diagnosis is suspected in the absence of pubertal development after the age of 14 years.…”

Section: Discussionsupporting

confidence: 81%

Rare association of Kallman Morsier syndrome with a non-functioning pituitary microadenoma

Mennani¹,

Bammou²,

Rafi³

et al. 2023

World J. Adv. Res. Rev.

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Kallmann's syndrome (KS) is a form of hypogonadotropic hypogonadism associated with a defect in the sense of smell, due to abnormal migration of gonadotropin-releasing hormone-producing neurons. We report the case of a patient aged 16 years and 6 months who presented a micropenis with poor development of secondary sexual characteristics and anosmia. Plasma levels of luteinizing hormone, follicle stimulating hormone and testosterone were very low, while chromosomal analysis showed a 46XY karyotype. Hypothalamic-pituitary MRI showed bilateral agenesis of the olfactory bulbs associated with a 4 mm pituitary microadenoma. The patient was put on hormone replacement therapy with a good response.

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Section: Discussionsupporting

confidence: 81%

Rare association of Kallman Morsier syndrome with a non-functioning pituitary microadenoma

Mennani¹,

Bammou²,

Rafi³

et al. 2023

World J. Adv. Res. Rev.

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“…We failed to perform brain or pituitary MRI at baseline in the present patient, and a recent consensus statement supports cranial MRI at baseline in the workup of congenital isolated HH patients, not only to assess inner ear, midline structures and olfactory structures, but also to identify potential tumors and/or space occupying lesions ( 27 ). Sellar abnormalities such as craniopharyngioma, intracranial cysts, empty sella, non-functional pituitary adenoma and also prolactinoma have been reported in patients with KS ( 21 , 28 – 30 ). On the other hand, the cost-effectiveness of brain imaging in congenital isolated HH has been debated as unsuspected structural lesions of etiological significance were observed in only 1-3% of patients in a larger cohort ( 31 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia

Jensterle,

Janež,

Vipotnik Vesnaver

et al. 2023

Front. Endocrinol.

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IntroductionThe occurrence of prolactinomas in sex hormone treated patients with central hypogonadism is extremely rare.Case presentationWe present a Caucasian male patient who was diagnosed with Kallmann syndrome (KS) at age 15 years. Testosterone treatment was started. At age 26 the patient presented with mild headache. MRI revealed two separate pituitary adenomas along with the absence of the olfactory bulbs. Given the presence of marked hyperprolactinemia (17x upper limit of the reference range) the diagnosis prolactinoma was made and treatment with cabergoline was started which resulted in a complete biochemical response and in marked reduction of both adenomas in size. Hypogonadism persisted and testosterone replacement therapy was continued. Genetic testing of genes associated with pituitary tumors, Kallmann syndrome and idiopathic hypogonadotropic hypogonadism was negative. Mild concomitant hypercalcemia in accordance with familial hypocalciuric hypercalcemia (FHH) prompted mutation analysis of the calcium receptor (CASR) gene which yielded a pathogenic inactivating variant.Discussion/conclusionThe presence of two separate prolactinomas in a patient with KS has not yet been reported in the literature. The effect of sex hormone treatment of KS patients on the possible development of prolactinoma is unknown at present. The occurance of multiple prolactinomas in our patient suggests increased susceptibility. Although CaSR is expressed in GnRH neurons in mouse brain and CaSR deficient mice have a reduced hypothalamic GnRH neuronal population, the relevance of the CASR gene variant in our patient for the KS phenotype is unclear at present.

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“…Kallmann syndrome (KS) is a rare genetic disorder which is characterized by anosmia and hypogonadotropic hypogonadism due to abnormal migration of gonadotropinreleasing hormone (GnRH)-producing neurons [68]. This is because of mutations in several genes such as KAL1, FGFR1, and PROKR2 genes which are mainly inherited in an autosomal dominant manner [3].…”

Section: Kallmann Syndromementioning

confidence: 99%

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

Marzouni¹,

Harchegani²,

Layali³

2021

JOMH

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Background and objectives: Recent investigations have reported more than 70 genetic syndromes involved in male infertility; however, the majority of these syndromes are extremely rare. We aimed to report the most common chromosomal abnormalities and associated rare genetic syndromes in the context of human male infertility. Materials and Methods: We performed a review of published articles considering the most common chromosomal aneuploidies and rare genetic syndromes associated with male infertility on PubMed, Web of Science, and Scopus. Results: Chromosomal abnormalities are frequently found in infertile men, with an incidence rate of 2-15%. The chromosomal aberrations include the sex and autosomal chromosome abnormalities, as well as numerical and structural defects in chromosomes. There are various rare genetic syndromes involved in male infertility that are caused by structural and numerical abnormalities in chromosomes. Klinefelter syndrome is the most common type of sex chromosome aneuploidy in infertile males. Besides, Y chromosome microdeletions, particularly in azoospermia factor regions, serve as the second most common genetic cause of impaired spermatogenetic in infertile men. These molecular genetic abnormalities not only can be inherited, but also they may transmit to the next generation through assisted reproductive techniques and result in the birth of boys with higher risk of congenital abnormalities and infertility. Despite the normal secondary male sexual characteristics, some patients are azoospermic or severe oligozoospermic men. Therefore, identiﬁcation of these molecular genetic factors and rare genetic disorders is essential in men with unexplained infertility. Discussion and conclusion: Since most of molecular genetic abnormalities can be transmitted to the next generation, identiﬁcation of these rare genetic disorders is crucial for men with unexplained infertility. It is also essential for clinicians and physicians of reproductive medicine and andrologists to initiate genetic evaluation, aneuploidy screening and counseling prior to any therapeutic procedures.

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A case of Kallmann syndrome associated with a non-functional pituitary microadenoma

Cited by 4 publications

References 12 publications

Rare association of Kallman Morsier syndrome with a non-functioning pituitary microadenoma

Rare association of Kallman Morsier syndrome with a non-functioning pituitary microadenoma

Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia

Chromosomal aneuploidies and associated rare genetic syndromes involved in male infertility

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