Turner Syndrome With Central Precocious Puberty During Growth Hormone Therapy: Combined Treatment With a Gonadotropin-Releasing Hormone Analog

Turner syndrome (TS) is a chromosomal disorder characterized by short stature and gonadal dysgenesis. However, precocious puberty is rarely observed in TS, and its optimal management remains unclear. We report a case of a 10-year-old girl with TS and a 45,X/46,XX mosaic karyotype who presented with menarche. She had been receiving growth hormone (GH) therapy since the age of four years and six months. Laboratory and imaging findings confirmed central precocious puberty (CPP), and gonadotropin-releasing hormone analog (GnRHa) therapy was introduced alongside GH therapy. Treatment with GnRHa continued until 11 years and 11 months, while GH therapy was maintained until 14 years and 11 months. The patient ultimately achieved a final height of 140.0 cm (-3.3 SD), within the target height range. This case highlights the rare occurrence of CPP in TS and demonstrates the potential impact of combined GH and GnRHa therapy on growth outcomes. Further studies are needed to establish the optimal treatment strategies, including the appropriate timing and duration of therapy for TS patients with CPP.

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Journal
Cureus
Published
2025-03-05
DOI
https://doi.org/10.7759/cureus.80107
Primary Topic
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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article
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article

Turner Syndrome With Central Precocious Puberty During Growth Hormone Therapy: Combined Treatment With a Gonadotropin-Releasing Hormone Analog

Katsunori Tanaka, M. Tagaya
Cureus
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
article

Turner Syndrome With Central Precocious Puberty During Growth Hormone Therapy: Combined Treatment With a Gonadotropin-Releasing Hormone Analog

Katsunori Tanaka, M. Tagaya
article en

Abstract

Turner syndrome (TS) is a chromosomal disorder characterized by short stature and gonadal dysgenesis. However, precocious puberty is rarely observed in TS, and its optimal management remains unclear. We report a case of a 10-year-old girl with TS and a 45,X/46,XX mosaic karyotype who presented with menarche. She had been receiving growth hormone (GH) therapy since the age of four years and six months. Laboratory and imaging findings confirmed central precocious puberty (CPP), and gonadotropin-releasing hormone analog (GnRHa) therapy was introduced alongside GH therapy. Treatment with GnRHa continued until 11 years and 11 months, while GH therapy was maintained until 14 years and 11 months. The patient ultimately achieved a final height of 140.0 cm (-3.3 SD), within the target height range. This case highlights the rare occurrence of CPP in TS and demonstrates the potential impact of combined GH and GnRHa therapy on growth outcomes. Further studies are needed to establish the optimal treatment strategies, including the appropriate timing and duration of therapy for TS patients with CPP.

CureusVol. 17(3)
Fukuoka Higashi Medical Center (JP), National Hospital Organization (JP)
Good health and well-being
Openalex Percentile: Top 95%
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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