Primary Amenorrhea in Pallister Killian Syndrome: Clinical Manifestation or Complication?

Authors

  • Luisa Abbattista Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Biomedical and Clinical Science “L. Sacco”, University of Milan, 20157 Milan, Italy
  • Paola Baldassarre Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Biomedical and Clinical Science “L. Sacco”, University of Milan, 20157 Milan, Italy
  • Roberta Grazi Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Biomedical and Clinical Science “L. Sacco”, University of Milan, 20157 Milan, Italy
  • Valeria Calcaterra Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Pediatric and Adolescent Unit, Department of Internal Medicine, University of Pavia, 27100 Pavia, Italy
  • Patrizia Carlucci Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy
  • Valentina Fabiano Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Biomedical and Clinical Science “L. Sacco”, University of Milan, 20157 Milan, Italy
  • Paola Erba Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy
  • Elvira Verduci Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Health Sciences, University of Milano, 20142 Milano, Italy
  • Gianvincenzo Zuccotti Pediatric Department, “Vittore Buzzi” Children’s Hospital, 20154 Milan, Italy and Department of Biomedical and Clinical Science “L. Sacco”, University of Milan, 20157 Milan, Italy

DOI:

https://doi.org/10.12974/2311-8687.2021.09.4

Keywords:

Primary amenorrhea, Pallister Killian syndrome, Undernutrition, Hypogonadotropic hypogonadism, Puberty.

Abstract

Introduction: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12 (12p). PKS has a wide spectrum of clinical manifestations which vary in different age groups. However, in the up to date literature there are no reported cases of puberty disorder associated with this syndrome. We describe a caucasian 17- year-old girl with PKS with primary amenorrhea as failure of appropriate pubertal progression.

Patient: at first general examination, the patient shows a phenotype compatible with the PKS of adulthood was noted. Auxological data revealed undernutrition (BMI ?3 z-score), with pubertal Tanner stage 3. A retarded bone age was detected. At pelvic ultrasound prepubertal uterus and microfollicular ovaries were noted. The laboratory data was compatible with hypogonadotropic hypogonadism.

Conclusion: this is the first case of primary amenorrhea in PKS. It would be interesting to reassess this novel finding in other patients affected by the same condition in order to establish whether hypogonadotropic hypogonadism is a typical clinical manifestation of the syndrome or it’s secondary to nutritional and stressful status. 

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Published

2021-06-02

How to Cite

Abbattista, L., Baldassarre, P., Grazi, R., Calcaterra, V., Carlucci, P., Fabiano, V., Erba, P., Verduci, E., & Zuccotti, G. (2021). Primary Amenorrhea in Pallister Killian Syndrome: Clinical Manifestation or Complication?. International Journal of Pediatrics and Child Health, 9, 31–34. https://doi.org/10.12974/2311-8687.2021.09.4

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