Different clinical presentation of Klinefelter's syndrome in monozygotic twins

Benaiges, David; Pedro‐Botet, Juan; Hernandez, Edrome; Tarragón, S.; Le-Roux, Juana A. Flores

doi:10.1111/and.12219

Cited by 5 publications

(7 citation statements)

References 17 publications

(20 reference statements)

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“…17 Overexpression of the SHOX gene is likely to be responsible for the normal stature seen in patients with KS. 18,19 No definite pathogenic mutation was found in the patient's SHOX sequence.…”

Section: Discussionmentioning

confidence: 92%

Combination of Klinefelter Syndrome and Acromegaly

Fang

Wu³

et al. 2016

Medicine

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Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in male population, which demonstrates an unusual association with acromegaly. We herein present a rare case involving the confirmation of KS 2 years after surgical treatment for acromegaly.A 27-year-old man presented with an acromegalic appearance. Endocrinological examination revealed a high growth hormone (GH) concentration, low testosterone concentration, and high follicle-stimulating hormone and luteinizing hormone concentration. Brain imaging revealed a 9 × 6 × 7− mm sellar low-density nodule suggestive of a microadenoma. Trans-sphenoidal surgery was undertaken, and immunohistochemistry revealed GH positivity. Two years after surgery, the patient underwent examination for infertility. He presented with diminished pubic hair, and small and firm testes. Hormonal assay revealed hypergonadotrophic hypogonadism on the basis of decreased serum total testosterone (<0.2 ng/mL), and elevated luteinizing hormone (14.71 mIU/mL) and follicle-stimulating hormone (21.8 mIU/mL). A chromosomal karyotype examination showed 47,XXY, confirming the diagnosis of KS. Replacement therapy with oral testosterone undecanoate was begun. Brain imaging showed no delayed enhancement in the saddle region of the pituitary gland, but the concentration of plasma insulin-like growth factor maintained a high level. The patient's GH concentration was not significantly suppressed by the GH glucose suppression test. In this consideration, he was referred for postoperative somatostatin analogue treatment to control GH hypersecretion.The misdiagnosis or delayed diagnosis of KS is mainly because of substantial variations in clinical presentation and insufficient professional awareness of the syndrome itself. As the simultaneous occurrence of KS and acromegaly is rare, and the association between them remains unclear, we suggest that complete pituitary hormonal screening and conventional pituitary MRI should be essential for patients with KS to screen for pituitary tumor.

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Section: Discussionmentioning

confidence: 92%

Combination of Klinefelter Syndrome and Acromegaly

Fang

Wu³

et al. 2016

Medicine

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“…Somatic mosaicism, a type of genetic mosaicism, is one of the causes of genetic disorders that the peripheral chromosomal test does not detect. Benaiges et al (2015) reported monozygotic twins with KS with 46, XY/47, XXY who showed different physical features. They identified the ratio of testicular tissue affected by mosaicism to be a possible reason for the difference.…”

Section: Discussionmentioning

confidence: 99%

Monozygotic adult twins with nonmosaic Klinefelter syndrome with different results of sperm retrieval

et al. 2021

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Klinefelter syndrome (KS) is the most common form of male hypogonadism or sex chromosome disorder in men, and it affects an estimated 1 in 500-1000 newborn males (Flannigan & Schlegel, 2017).Clinically, this is because of an additional X chromosome in human males, which most commonly manifests as 47, XXY. The typical clinical manifestations of the syndrome include atrophic testes, hypergonadotrophic hypogonadism, gynecomastia, eunuchoidism, and decreased facial and body hair. Despite the physical features of the syndrome, it is frequently misdiagnosed in prepubescent boys and even adult men (Groth et al., 2013).The frequency of each manifestation varies from person to person, but infertility is observed in practically every case. These clinical features are due to the supplementary X chromosome, particularly supplementary genes that have evaded inactivation (Navarro-Cobos et al., 2020). However, the mechanisms that cause hypogonadism and testicular atrophy are largely unknown. Monozygotic twins are genetically identical, and their physical features are usually similar. In an in vivo setting, monozygotic twinning is reported to occur in about 0.4% of the cases (Abusheika et al., 2000). There are few previous

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“…Najčastejšími dôvodmi vedúcimi k diagnóze sú najmä infertilita a malé testes. Ďalšie príznaky, ktoré môžu byť prítomné sú vysoká postava, gyneko mastia, prejavy hypoandrogenizácie, oneskorená puberta, problémy s učením [2]. Laboratórnym nálezom pri KS je hypergonadotropný hypogonadizmus s vyššou hladinou FSH ako LH.…”

Section: úVodunclassified

The combination of acromegaly and Klinefelter syndrome in one patient

Ságová¹,

Pávai²,

Kantárová³

et al. 2019

Vnitr Lek

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SúhrnAkromegália je zriedkavé ochorenie, ktorého najčastejšou príčinou je adenóm hypofýzy. V dôsledku dlhodobej elevácie rastového hormónu (RH) a inzulínu podobného rastového faktora 1 (IGF1) pri tomto ochorení dochádza k rozvoju komplikácií ako kardiomyopatia, diabetes mellitus, syndróm spánkového apnoe a artropatia. Incidencia akromegálie je 3-4 pacienti na 1 000 000 za rok. Klinefelterov syndróm (KS) je najčastejšou príčinou mužského hypogonadizmu, vyskytujúcou sa u približne 1 z 500 živo narodených chlapcov. Medzi klinické charakteristiky KS patria najmä malé semenníky, spomedzi ďalších príznakov je to vysoká postava, znížený svalový tonus, oneskorená puberta s nedostatočným vývojom sekundárnych pohlavných znakov a gynekomastia. V našej kazuistike prezentujeme 32-ročného muža s kombináciou akromegálie a 47,XXY Klinefelterovho syndrómu. Pacient klinicky s typickými akromegalickými znakmi. Laboratórne bola potvrdená vysoká hladina rastového hormónu bez supresie v orálnom glukózovom tolerančnom teste, vysoká hladina IGF1, nízka hladina testosterónu s vysokými hladinami luteinizačného hormónu (LH) a folikuly stimulačného hormónu (FSH). Doplnená magnetická rezonancia s nálezom makroadenómu hypofýzy veľkosti 25 × 18 × 18 mm. Na základe uvedeného bola potvrdená diagnóza akromegálie. Následne realizovaná transsfenoidálna resekcia makroadenómu hypofýzy. Histopatologické a imunohistochemické nálezy odhalili rastový hormón produkujúci adenóm hypofýzy. Prítomnosť klinických znakov -malých, tuhých semenníkov, nedostatku sekundárnych pohlavných mužských znakov, ako aj laboratórne vyšetrenia suponovali hypergonadotropný hypogonadizmus, ktorý nemohol byť vysvetlený diagnózou akromegálie. Chromozomálny karyotyp 47,XXY potvrdil diagnózu KS. Substitučná liečba testosterónom nebola zahájená z dôvodu nesúhlasu pacienta. Pooperačne pretrvávala zvýšená plazmatická koncentrácia RH a IGF1. Bola zahájená liečba somatostatínovými analógmi (lanreotid) v dávke 120 mg každých 28 dní. Kontrolná magnetická rezonancia hypo fýzy preukázala reziduum veľkosti 14 × 14 × 7 mm. Aktuálne je pacient po endoskopickej revízii rezidua. Kľúčové slová: akromegália -IGF1 -Klinefelterov syndróm -rastový hormón -testosterón The combination of acromegaly and Klinefelter syndrome in one patient SummaryAcromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor 1 (IGF1) levels accompanying this disease is associated with complications such as cardiomyopathy, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-4 patients per million per year. Klinefelter syndrome (KS) is the most common sex chromosome disorder occuring in about 1/500 live male births. Common physical features include particularly small testes, among other symptoms are tall stature, reduced muscle tone, delayed pubertal development, lack of secondary male sex characteristics and gynecomastia. We present a 32-year-old man suffering from both acromegaly and 47, XX...

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Different clinical presentation of Klinefelter's syndrome in monozygotic twins

Cited by 5 publications

References 17 publications

Combination of Klinefelter Syndrome and Acromegaly

Combination of Klinefelter Syndrome and Acromegaly

Monozygotic adult twins with nonmosaic Klinefelter syndrome with different results of sperm retrieval

The combination of acromegaly and Klinefelter syndrome in one patient

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