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Hypogonadism and pubertal development in Prader-Willi syndrome

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Abstract

Genital abnormalities and disorders of pubertal development such as hypogonadism are common in Prader-Willi Syndrome (PWS). Depending on age, PWS patients present genital hypoplasia and delayed or incomplete gonadal maturation. Nevertheless, only a few evaluations have been made of these findings in this syndrome; in the cases previously reported the diagnosis of PWS has often been based only on clinical criteria and not confirmed by genetic analysis. In this paper we describe both external genital findings and spontaneous pubertal development in 84 patients aged from 2.1 to 35.4 (42 males, 42 females) affected by PWS. Diagnosis was made using the Holm and Cassidy criteria and was confirmed by genetic analysis (methylation test and/or FISH). We evaluated the presence of cryptorchidism, scrotal development, length of penis and volume of testis in males and outlook of labia minora and/or clitoris, age of menarche and features of menses (when present) in females; in both sexes we also evaluated the onset of puberty. All recruited males showed cryptorchidism, which was bilateral in 36 out of 42 patients (86%); 38 patients (90%) underwent orchidopexy. Small testes and scrotal hypoplasia were present in 76% and 69% of cases, respectively. In 76% of females, hypoplasia or absence of labia minora and/or clitoris was described. Spontaneous menarche occurred only in 14/32 cases (44%) over the age of 15 years, but menstrual cycles were often a periodical vaginal spotting. Primary amenorrhea was diagnosed in 56% of cases. Isolated premature pubarche was present in six males and in six females (14% of cases) while one male and two females were affected by precocious puberty (3.6%). Conclusion: Hypogonadism represents a common clinical feature in PWS, confirming the importance of such a major diagnostic criterion. Cryptorchidism was consistently present in all our cases. Patients with PWS commonly fail to spontaneously complete puberty, although some patients may have early pubarche or, more rarely, precocious puberty. In older subjects, hormonal replacement therapy is not always necessary and it must be reserved for selected patients.

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Acknowledgements

We are grateful to Mrs. Andreina Santoro, who kindly revised the English text, and the Italian Prader-Willi Syndrome Association for the active collaboration with the Genetic Obesity Study Group of SIEDP. We also wish to thank the children and their parents, who participated in this study.

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Authors and Affiliations

  1. Unit of Autoimmune Endocrine Diseases, Pediatric Endocrinology Dept., Bambino Gesù Children's Hospital, Scientific Institute, Piazza S.Onofrio, 4 00165, Rome , Italy

    A. Crinò, R. Schiaffini, P. Ciampalini & S. Spera

  2. San Raffaele Hospital, Scientific Institute, Milan, Italy

    L. Beccaria, F. Benzi & L. Bosio

  3. Pediatric Endocrinology Dept., Regina Margherita Hospital, Turin, Italy

    A. Corrias

  4. Pediatric Hospital, Treviglio (Bergamo), Italy

    L. Gargantini

  5. Circolo Hospital, Varese, Italy

    A. Salvatoni

  6. Burlo Garofolo Hospital, Scientific Institute, Trieste, Italy

    G. Tonini

  7. S. Giuseppe, FBF Hospital, Milan, Italy

    G. Trifirò

  8. Dept. of Health and Applied Sciences, Pavia, Italy

    C. Livieri

Authors
  1. A. Crinò
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  2. R. Schiaffini
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  3. P. Ciampalini
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  4. S. Spera
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  5. L. Beccaria
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  6. F. Benzi
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  7. L. Bosio
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  8. A. Corrias
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  9. L. Gargantini
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  10. A. Salvatoni
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  11. G. Tonini
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  12. G. Trifirò
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  13. C. Livieri
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Consortia

Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (SIEDP)

Corresponding author

Correspondence to A. Crinò.

Additional information

The Coordinator of the Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (SIEDP) is L. Bosio

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Crinò, A., Schiaffini, R., Ciampalini, P. et al. Hypogonadism and pubertal development in Prader-Willi syndrome. Eur J Pediatr 162, 327–333 (2003). https://doi.org/10.1007/s00431-002-1132-4

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  • DOI: https://doi.org/10.1007/s00431-002-1132-4

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