Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
-
Sara Vandewalle
,
Eva Van Caenegem
Abstract
Background:
Sex steroids are essential for sexual maturation, linear growth and bone development. However, there is no consensus on the optimal timing, dosage and dosage interval of testosterone therapy to induce pubertal development and achieve a normal adult height and bone mass in children with hypogonadism.
Case presentation:
A monozygotic monochorial male twin pair, of which one boy was diagnosed with anorchia at birth due to testicular regression syndrome was followed from the age of 3 until the age of 18 years. Low dose testosterone substitution (testosterone esters 25 mg/2 weeks) was initiated in the affected twin based on the start of pubertal development in the healthy twin and then gradually increased accordingly. Both boys were followed until age 18 and were compared as regards to linear growth, sexual maturation, bone maturation and bone development. Before puberty induction both boys had a similar weight and height. During puberty, a slightly faster weight and height gain was observed in the affected twin. Both boys ended up however, with a similar and normal (near) adult height and weight and experienced a normal development of secondary sex characteristics. At the age of 17 and 18 years, bone mineral density, body composition and volumetric bone parameters at the forearm and calf were evaluated in both boys. The affected boy had a higher lean mass and muscle cross-sectional area. The bone mineral density at the lumbar spine and whole body was similar. Trabecular and cortical volumetric bone parameters were comparable. At one cortical site (proximal radius), however, the affected twin had a smaller periosteal and endosteal circumference with a thicker cortex.
Conclusions:
In conclusion, a low dose testosterone substitution in bilateral anorchia led to a normal onset of pubertal development and (near) adult height. Furthermore, there was no difference in bone mineral density at the age of 17 and 18 years.
Acknowledgments
We would like to thank Dr. Tom Fiers, Brigitte Bernaerd and Eric Vandersypt for the implementation of the liquid chromatography tandem-mass spectrometry (LC-MS-MS) technique.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported in part by Grant G.0867.11 from the Research Foundation Flanders (FWO Vlaanderen). S.V. and E.V.C. were holders of a PhD fellowship and Y.T. was holder of a postdoctoral fellowship from the Research Foundation Flanders at the time of the research.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Rosen D. Physiologic growth and development during adolescence. Pediatr Rev 2004;25:194–9.10.1542/pir.25-6-194Search in Google Scholar PubMed
2. Soyka L, Fairfield W, Klibanski A. Hormonal determinants and disorders of peak bone mass in children. J Clin Endocrinol Metab 2000;85:3951–63.10.1210/jc.85.11.3951Search in Google Scholar
3. Pozo J, Argente J. Ascertainment and treatment of delayed puberty. Horm Res 2003;3:35–48.10.1159/000074498Search in Google Scholar PubMed
4. Vandewalle S, Taes Y, Fiers T, Toye K, Van Caenegem E, et al. Associations of sex steroids with bone maturation, bone mineral density, bone geometry and body composition: a cross-sectional study in healthy male adolescents. J Clin Endocrinol Metab 2014;99:E1272–82.10.1210/jc.2013-3887Search in Google Scholar PubMed
5. Baecke J, Burema J, Frijters J. A short questionnaire for the measurement of habitual physical activity in epidemiological studies. Am J Clin Nutr 1982;36:936–42.10.1093/ajcn/36.5.936Search in Google Scholar PubMed
6. Roelants M, Hauspie R, Hoppenbrouwers K. References for growth and pubertal development from birth to 21 years in Flanders (Belgium). Ann Hum Biol 2009;36:680–94.10.3109/03014460903049074Search in Google Scholar PubMed
7. Tanner JM. Assessment of skeletal maturity and prediction of adult height (TW 2 method). London: Academic Press, 1975.Search in Google Scholar
8. Vermeulen A, Verdonck L, Kaufman JM. A critical evaluation of simple methods for the estimation of free testosterone in serum. J Clin Endocrinol Metab 1999;84:3666–72.10.1210/jcem.84.10.6079Search in Google Scholar PubMed
9. Van Caenegem E, Wierckx K, Taes Y, Dedecker D, Van de Peer F, et al. Bone mass, bone geometry, and body composition in female-to-male transsexual persons after long-term cross-sex hormonal therapy. J Clin Endocrinol Metab 2012;97:2503–11.10.1210/jc.2012-1187Search in Google Scholar PubMed
10. Vandewalle S, Taes Y, Van Helvoirt M, Debode P, Herregods N, et al. Bone size and bone strength are increased in obese male adolescents. J Clin Endocrinol Metab 2013;98:3019–28.10.1210/jc.2012-3914Search in Google Scholar PubMed
11. Richman RA, Kirsch LR. Testosterone treatment in adolescent boys with constitutional delay in growth and development. N Engl J Med 1988;319:1563–7.10.1056/NEJM198812153192402Search in Google Scholar PubMed
12. Bergada I, Bergada C. Long term treatment with low dose testosterone in constitutional delay of growth and puberty: effect on bone age maturation and pubertal progression. J Pediatr Endocrinol Metab 1995;8:117.10.1515/JPEM.1995.8.2.117Search in Google Scholar PubMed
13. Arrigo T, Cisternino M, Luca De F, Saggese G, Messina MF, et al. Final height outcome in both untreated and testosterone-treated boys with constitutional delay of growth and puberty. J Pediatr Endocrinol Metab 1996;9:511–7.10.1515/JPEM.1996.9.5.511Search in Google Scholar PubMed
14. Rogol AD. Pubertal androgen therapy in boys. Pediatr Endocrinol Rev 2005;2:383–90.Search in Google Scholar
15. Newman H, Freeman FN, Holzinger KJ. Twins: a study of heredity and environment. Chicago, IL: University of Chicago Press, 1937.Search in Google Scholar
16. Kato T, Oida T, Otoshi T, Katayama K, Kobayashi K, et al. Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia. Hinyokika Kiyo 2011;57:399–401.Search in Google Scholar
17. Ruvalcaba RH, Godué HP, Kelley VC. Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. Pediatrics 1981;67:276–80.10.1542/peds.67.2.276Search in Google Scholar
18. Bhasin S, Woodhouse L, Casaburi R, Singh AB, Bhasin D, et al. Testosterone dose-response relationships in healthy young men. Am J Physiol Endocrinol Metab 2001;281:E1172–81.10.1152/ajpendo.2001.281.6.E1172Search in Google Scholar PubMed
19. Ohtsuki T, Klissouras V. Genetic basis of individual differences in tissue composition. Acta Genet Med Gemellol 1976;25:157–63.10.1017/S0001566000014045Search in Google Scholar
20. Seeman E. Clinical review 137: sexual dimorphism in skeletal size, density and strength. J Clin Endocrinol Metab 2001;86:4576–84.10.1210/jcem.86.10.7960Search in Google Scholar PubMed
21. Lorentzon M, Swanson C, Andersson N, Mellström D, Ohlsson C. Free testosterone is a positive, whereas free estradiol is a negative predictor of cortical bone size in young Swedish men: the Good study. J Bone Miner Res 2005;20:1334–41.10.1359/JBMR.050404Search in Google Scholar PubMed
©2018 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Review
- Vitamin D deficiency in childhood: old lessons and current challenges
- Original Articles
- Brain gray matter volume differences in obese youth with type 2 diabetes: a pilot study
- Prevalence and clinical presentation at the onset of type 1 diabetes mellitus among children and adolescents in AL-Baha region, Saudi Arabia
- Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents
- The utility of body mass index as an indicator for lipid abnormalities in non-fasting children
- Association of insulin-like growth factor-1 and IGF binding protein-3 with 25-hydroxy vitamin D in pre-pubertal and adolescent Indian girls
- The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
- Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
- Age of pubertal events among school girls in Lagos, Nigeria
- Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- Case Reports
- Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
- A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
- Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
Articles in the same Issue
- Frontmatter
- Review
- Vitamin D deficiency in childhood: old lessons and current challenges
- Original Articles
- Brain gray matter volume differences in obese youth with type 2 diabetes: a pilot study
- Prevalence and clinical presentation at the onset of type 1 diabetes mellitus among children and adolescents in AL-Baha region, Saudi Arabia
- Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents
- The utility of body mass index as an indicator for lipid abnormalities in non-fasting children
- Association of insulin-like growth factor-1 and IGF binding protein-3 with 25-hydroxy vitamin D in pre-pubertal and adolescent Indian girls
- The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
- Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
- Age of pubertal events among school girls in Lagos, Nigeria
- Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- Case Reports
- Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
- A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
- Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
