1. Onset and progression of puberty in Klinefelter syndrome
- Author
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Päivi J. Miettinen, Jorma Toppari, Matti Hero, Taneli Raivio, Mila Tanner, Faculty of Medicine, Children's Hospital, HUS Children and Adolescents, STEMM - Stem Cells and Metabolism Research Program, Centre of Excellence in Stem Cell Metabolism, Clinicum, Timo Pyry Juhani Otonkoski / Principal Investigator, Research Programs Unit, and Raivio Group
- Subjects
Male ,Delayed puberty ,puberty ,medicine.medical_specialty ,Adolescent ,Endocrinology, Diabetes and Metabolism ,LUTEINIZING-HORMONE ,030209 endocrinology & metabolism ,testis ,DIAGNOSIS ,SERUM ,03 medical and health sciences ,Follicle-stimulating hormone ,0302 clinical medicine ,Endocrinology ,INHIBIN B ,TESTOSTERONE ,Internal medicine ,medicine ,Humans ,Klinefelter syndrome ,Retrospective Studies ,ADOLESCENT BOYS ,030219 obstetrics & reproductive medicine ,TESTICULAR FUNCTION ,business.industry ,Delayed onset ,androgens ,Testosterone (patch) ,DELAYED PUBERTY ,Luteinizing Hormone ,Nomogram ,FOLLICLE-STIMULATING-HORMONE ,medicine.disease ,spermatogenesis ,3121 General medicine, internal medicine and other clinical medicine ,Female ,sex chromosome disorder ,HYPOGONADISM ,medicine.symptom ,Luteinizing hormone ,business ,Spermatogenesis - Abstract
Objective: Klinefelter syndrome (KS) (47,XXY and variants, KS) is the most common sex chromosome disorder in humans. However, little is known about the onset and progression of puberty in patients with KS. In this study, we describe the onset and progression of puberty in a large series of boys with KS in a single tertiary centre. Design and Patients: Retrospective data (Tanner stages, testicular length, testosterone supplementation, levels of luteinizing hormone [LH] and testosterone) before possible testosterone treatment on 72 KS patients with 47,XXY karyotype were reviewed, and G (n = 59 patients) and P (n = 56 patients) stages were plotted on puberty nomograms. Measurements and Results: One boy had a delayed onset of puberty, as he was at the G1 stage at the age of 13.8 years (-2.2 SDs). No observations of delay were made of boys at Stage G2. The progression of G stages was within normal limits in the majority of patients; only few boys were late at G3 (4.1%; 1 out of 24) and G4 (7.4%; 2 out of 27). Testosterone supplementation was started at the average age of 15.5 years to 35 boys (47%), 2 of whom were over 18 years old. LH level was on average 18.2 IU/L (SD: 6.3 IU/L) and testosterone 9.1 nmol/L (SD: 3.1 nmol/L) when testosterone supplementation was started. Conclusions: Our results suggest that puberty starts within the normal age limits in boys with KS, and testosterone supplementation is not needed for the initial pubertal progression in the majority of patients.
- Published
- 2021