Endocrine Features of Klinefelterʼs Syndrome

Wa, Hsueh; Th, Hsu; Dd, Federman

doi:10.1097/00005792-197809000-00004

Cited by 66 publications

(42 citation statements)

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“…[20] It is not known whether morbidities associated with syndrome are consequences of hypogonadism and hyperestrogenism, or if they manifest as a result of dysfunction of genes related to X chromosome.…”

Section: Discussionmentioning

confidence: 99%

The Effects of Androgen Replacement Therapy on Glycemic Control in a Case with Klinefelter Syndrome and Poorly Controlled Diabetes

Özderya¹

2017

South Clin Ist Euras

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Klinefelter syndrome (KS) is the most common sex chromosome anomaly among men. It is usually characterized by hypergonadotropic hypogonadism, eunuchoid body structure, and most often, 47,XXY karyotype. Studies have shown that KS patients have high risk of developing autoimmune diseases and diabetes, and the hypogonadism that accompanies the syndrome makes regulation of diabetes more difficult. A 39-year-old man with KS was admitted to Endocrinology and Metabolic Diseases Polyclinic because of increased blood glucose level: His glycated hemoglobin (HbA1c) value was 14.9%. He had diabetes for approximately 5 years and was using 80 IU insulin daily at time of admission, but after testosterone replacement therapy, his insulin requirement decreased to 60 units. Follow-up HbA1c was 7.7% after 2 months of androgen replacement therapy. Hypoandrogenemia may contribute to development of newly diagnosed diabetes or deterioration of pre-existing diabetes. Testosterone replacement therapy can improve glycemic control in these patients.

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Section: Discussionmentioning

confidence: 99%

The Effects of Androgen Replacement Therapy on Glycemic Control in a Case with Klinefelter Syndrome and Poorly Controlled Diabetes

Özderya¹

2017

South Clin Ist Euras

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“…Peningkatan ukuran segmen bawah tubuh (jarak simfisis pubis ke tumit) timbul sebelum pubertas dan bukan disebabkan secara primer akibat penutupan epifisis yang terlambat karena defisiensi androgen, tetapi karena perbedaan kecepatan tumbuh secara fundamental yang timbul akibat adanya kromosom X tambahan. 18 Akibatnya tinggi badan pasien SK sering melebihi tinggi potensial genetiknya. 3 Fungsi endokrin testikular yang sudah menurun sejak janin, fungsi hipofisis-gonadal pasca-natal pasien SK dapat normal hingga pubertas.…”

Section: Diskusiunclassified

“…Kadar testosteron pada saat itu dapat berada pada nilai batas bawah sampai di bawah normal. 18,19 Pada kasus ini terdapat hipergonadotropik pada pasien yang sedang mengalami pubertas. Pubertas terutama ditandai oleh peningkatan kadar LH dengan rasio LH/ FSH >1, sedangkan pada pasien ini FSH meningkat lebih tinggi dari pada LH dengan rasio LH/FSH 0,4.…”

Section: Diskusiunclassified

Sindrom Klinefelter

Harmin

2016

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Sindrom Klinefelter (SK) merupakan kelainan akibat adanya kromosom seks tambahan (47,XXY) yang menyebabkan hipergonadotropik hipogonadisme, dan infertilitas. Penampilan pasien SK hampir tidak berbeda dengan mereka yang berkariotip normal, tanpa gejala klinis yang khas selama masa anak, sehingga diagnosis ditegakkan setelah usia remaja atau dewasa muda. Keterlambatan dalam penegakkan diagnosis dapat menyebabkan hilangnya kesempatan tata laksana untuk memperbaiki hipogonadisme, gangguan kognitif, dan faktor-faktor psikososial. Dilaporkan kasus anak laki-laki 13 tahun dengan keluhan ginekomastia. Pada pemeriksaan fisis ditemukan bentuk tubuh eunokoid, volume testis yang kecil dan teraba keras. Pemeriksaan laboratorium menunjukkan peningkatan kadar LH dan FSH, dengan kadar testosteron yang masih dalam rentang normal. Diagnosis SK ditegakkan melalui pemeriksaan analisis kromosom dengan hasil 47, XXY.

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“…Associated endocrine complications include diabetes mellitus, hypothyroidism, and hypoparathyrodism (Hsueh et al 1978). Autoimmune diseases, such as systemic lupus erythematosus, Sjogren syndrome, and rheumatoid arthritis, are more common in Klinefelter syndrome, with frequencies similar to those found in 46,XX females.…”

Section: Complicationsmentioning

confidence: 99%