Turner Syndrome Market Size & Share Analysis - Growth Trends & Forecast (2025 - 2030)

The Turner Syndrome Market Report is Segmented by Type (Monosomy X (Classic Turner Syndrome) and Mosaic Turner Syndrome), by Treatment Type (Hormone Therapy and Others), by Route of Administration (Oral and Injectables) and Geography (North America, Europe, Asia-Pacific, and Rest of the World). The Report Offers the Value (USD) for the Above Segments.

Turner Syndrome Market Size & Share Analysis - Growth Trends & Forecast (2025 - 2030)

Turner Syndrome Market Size

Turner Syndrome Market Summary
Study Period 2019 - 2030
Market Size (2025) USD 0.8 Billion
Market Size (2030) USD 1.13 Billion
CAGR (2025 - 2030) 7.04 %
Fastest Growing Market Asia Pacific
Largest Market Americas
Market Concentration Medium

Major Players

Turner Syndrome Market Major Players

*Disclaimer: Major Players sorted in no particular order

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Turner Syndrome Market Analysis

The Turner Syndrome Market size is estimated at USD 0.80 billion in 2025, and is expected to reach USD 1.13 billion by 2030, at a CAGR of 7.04% during the forecast period (2025-2030).

Turner syndrome is a genetic condition that affects females and results from the complete or partial absence of one X chromosome. The increasing prevalence of Turner syndrome is contributing to market growth. For instance, a study published in Pediatric Medicine in May 2023 highlighted that Turner syndrome (TS) occurs in approximately one out of every 2,500 to 4,000 live-born females worldwide. It is characterized by traits like short stature, ovarian insufficiency, heart defects, autoimmune disorders, low bone density, and a higher likelihood of developing insulin resistance and type 2 diabetes. These factors underscore the importance of advancing research and treatment options for Turner syndrome to address its associated challenges effectively.

In addition, infertility is prevalent in women with Turner syndrome due to ovarian dysgenesis, low egg count, and uterine abnormalities. For instance, according to a study published in the BMC Pregnancy and Childbirth Journal in September 2024, analyzed live birth rates and pregnancy outcomes in 417 patients across 14 studies. The findings showed a 40% live birth rate per patient and a 17% rate per embryo transfer cycle, with 31% achieving clinical pregnancy per cycle. Additionally, 12% of pregnancies experienced hypertensive complications. These results highlight the challenges and risks associated with pregnancy in Turner syndrome patients.

Advancements in fertility treatments, particularly non-invasive prenatal testing (NIPT), are driving market growth. NIPT is a safe and effective blood test used during the first trimester to detect chromosomal abnormalities like Down syndrome, Turner syndrome, and Edward syndrome. It provides early and accurate insights, helping expectant parents make informed decisions. For instance, according to a study published in BMC Pregnancy and Childbirth in January 2024 analyzed NIPT's effectiveness in detecting fetal sex chromosome aneuploidies (SCAs) among 9,176 Korean pregnant women. The study identified 46 SCA-positive cases, including 20 Turner syndrome cases, 12 triple X syndrome cases, 8 Klinefelter syndrome cases, and 6 Jacob syndrome cases. Among 37 women who underwent invasive prenatal diagnosis, 19 cases were confirmed as true positives. The overall positive predictive value (PPV) of NIPT for SCAs was 51.35%, with specific PPVs of 18.75% for Turner syndrome. These findings highlight NIPT's clinical utility in identifying chromosomal abnormalities, reinforcing its role as a transformative tool in prenatal care and supporting its growing adoption in the market.

As a result, factors such as the increasing prevalence of Turner syndrome, the growing number of infertility cases linked to the condition, and advancements in fertility treatment technologies are expected to drive the growth of the Turner Syndrome Market during the forecast period. These elements collectively highlight the rising demand for effective diagnostic and therapeutic solutions. In conclusion, the market is poised for significant expansion as awareness and medical innovations continue to address the challenges associated with Turner syndrome.

However, the high cost of treatment, side effects of hormonal therapies and limited awareness about Turner syndrome in underdeveloped regions restrain the market growth. 

Turner Syndrome Industry Overview

The Turner syndrome market is categorized as semi-consolidated because a limited number of prominent companies dominate a significant portion of the market share. Key players such as Pfizer Inc., Novartis AG, Eli Lilly and Company, Novo Nordisk Inc., and Lumos Pharma are actively pursuing strategies like strategic partnerships, acquisitions, and continuous product innovation to strengthen their competitive position and expand their market reach.

Turner Syndrome Market Leaders

  1. Pfizer Inc. 

  2. Novartis AG

  3. Eli Lilly and Company

  4. Novo Nordisk Inc.

  5. Lumos Pharma

  6. *Disclaimer: Major Players sorted in no particular order
Global Turner Syndrome Market Concentration
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Turner Syndrome Market News

  • December 2024: Ascendis Pharma A/S reported positive Week 26 results from its Phase 2 New InsiGHTS trial in the United States, which evaluated the safety, tolerability, and efficacy of once-weekly TransCon hGH (lonapegsomatropin) versus daily somatropin in prepubertal children with Turner syndrome. The study enrolled 49 children aged 1 to 10 years, divided into four groups receiving either one of three TransCon hGH doses (0.24, 0.30, or 0.36 mg/kg/week) or daily somatropin (0.35 mg/kg/week). The findings highlight the potential of TransCon hGH as a viable treatment option for Turner syndrome.
  • May 2024: At the 26th European Congress of Endocrinology in Stockholm, Sweden, Jintrolong PEG-SOMATROPIN, developed by GenSci, was presented during the Growth Hormone Research Society (GRS) symposium. The product, a long-acting growth hormone (LAGH), was highlighted for its ability to reduce injection frequency and improve patient adherence. As the only LAGH available in China, Jintrolong has shown proven safety and effectiveness in treating conditions such as Growth Hormone Deficiency (GHD), Idiopathic Short Stature (ISS), Small for Gestational Age (SGA), and Turner Syndrome (TS). This advancement reinforces its role in improving treatment outcomes for growth-related disorders.

Turner Syndrome Market Report - Table of Contents

1. INTRODUCTION

  • 1.1 Study Assumptions and Market Definition
  • 1.2 Scope of the Study

2. RESEARCH METHODOLOGY

3. EXECUTIVE SUMMARY

4. MARKET DYNAMICS

  • 4.1 Market Overview
  • 4.2 Market Drivers
    • 4.2.1 Rising Prevelence of Turner Syndrome with Emerging Fertility Treatment Options
    • 4.2.2 Growing Availibility of Growth Hormone Therapy
  • 4.3 Market Restraints
    • 4.3.1 High Treatment Cost and Side Effects of Hormonal Therapies
  • 4.4 Porter's Five Force Analysis
    • 4.4.1 Threat of New Entrants
    • 4.4.2 Bargaining Power of Buyers/Consumers
    • 4.4.3 Bargaining Power of Suppliers
    • 4.4.4 Threat of Substitute Products
    • 4.4.5 Intensity of Competitive Rivalry

5. MARKET SEGMENTATION (Market Size by Value)

  • 5.1 By Type
    • 5.1.1 Monosomy X (Classic Turner Syndrome)
    • 5.1.2 Mosaic Turner Syndrome
  • 5.2 By Treatment Type
    • 5.2.1 Hormone Therapy
    • 5.2.1.1 Growth Hormone Therapy
    • 5.2.1.2 Oestrogen and Progesterone Replacement Therapy
    • 5.2.2 Others (Fertility Treatment, Psychological Therapy, etc)
  • 5.3 By Route of Administration
    • 5.3.1 Oral
    • 5.3.2 Injectables
  • 5.4 Geography
    • 5.4.1 North America
    • 5.4.1.1 United States
    • 5.4.1.2 Canada
    • 5.4.1.3 Mexico
    • 5.4.2 Europe
    • 5.4.2.1 Germany
    • 5.4.2.2 United Kingdom
    • 5.4.2.3 France
    • 5.4.2.4 Italy
    • 5.4.2.5 Spain
    • 5.4.2.6 Rest of Europe
    • 5.4.3 Asia-Pacific
    • 5.4.3.1 China
    • 5.4.3.2 Japan
    • 5.4.3.3 India
    • 5.4.3.4 Australia
    • 5.4.3.5 South Korea
    • 5.4.3.6 Rest of Asia-Pacific
    • 5.4.4 Rest of the World

6. COMPETITIVE LANDSCAPE

  • 6.1 Company Profiles
    • 6.1.1 Pfizer Inc.
    • 6.1.2 Sandoz Inc.
    • 6.1.3 Eli Lilly and Company
    • 6.1.4 Novo Nordisk Inc.
    • 6.1.5 Cooper Pharma.
    • 6.1.6 Ascendis Pharma group
    • 6.1.7 BioMarin
    • 6.1.8 F. Hoffmann-La Roche Ltd
    • 6.1.9 Sanofi
    • 6.1.10 Abbott
    • 6.1.11 Merck KGaA
  • *List Not Exhaustive

7. MARKET OPPORTUNITIES AND FUTURE TRENDS

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**Competitive Landscape Covers - Business Overview, Financials, Products and Strategies, and Recent Developments
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Turner Syndrome Industry Segmentation

Turner syndrome is a genetic disorder that exclusively affects females and arises due to the complete or partial absence of one X chromosome (sex chromosome). This condition is characterized by several medical and developmental challenges, including short stature, underdeveloped ovaries leading to infertility, and potential heart abnormalities. It represents a significant area of focus within the healthcare sector due to its impact on quality of life and the need for specialized medical interventions.

The Turner syndrome market is segmented into type, treatment type, route of administration, and geography. By type, the market is segmented into monosomy x (classic turner syndrome) and mosaic turner syndrome. By treatment type, the market is segmented into hormone therapy and others. By route of administration, the market is segmented into oral and injectables. By geography, the market is segmented into North America, Europe, Asia-Pacific, and Rest of the World. The report also offers the market size and forecasts for 17 countries across the region. For each segment, the market sizing and forecasts have been done on the basis of revenue (USD).

By Type Monosomy X (Classic Turner Syndrome)
Mosaic Turner Syndrome
By Treatment Type Hormone Therapy Growth Hormone Therapy
Oestrogen and Progesterone Replacement Therapy
Others (Fertility Treatment, Psychological Therapy, etc)
By Route of Administration Oral
Injectables
Geography North America United States
Canada
Mexico
Europe Germany
United Kingdom
France
Italy
Spain
Rest of Europe
Asia-Pacific China
Japan
India
Australia
South Korea
Rest of Asia-Pacific
Rest of the World
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Turner Syndrome Market Research FAQs

How big is the Turner Syndrome Market?

The Turner Syndrome Market size is expected to reach USD 0.8 billion in 2025 and grow at a CAGR of 7.04% to reach USD 1.13 billion by 2030.

What is the current Turner Syndrome Market size?

In 2025, the Turner Syndrome Market size is expected to reach USD 0.8 billion.

Who are the key players in Turner Syndrome Market?

Pfizer Inc., Novartis AG, Eli Lilly and Company, Novo Nordisk Inc. and Lumos Pharma are the major companies operating in the Turner Syndrome Market.

Which is the fastest growing region in Turner Syndrome Market?

Asia Pacific is estimated to grow at the highest CAGR over the forecast period (2025-2030).

Which region has the biggest share in Turner Syndrome Market?

In 2025, the Americas accounts for the largest market share in Turner Syndrome Market.

What years does this Turner Syndrome Market cover, and what was the market size in 2024?

In 2024, the Turner Syndrome Market size was estimated at USD 0.74 billion. The report covers the Turner Syndrome Market historical market size for years: 2019, 2020, 2021, 2022, 2023 and 2024. The report also forecasts the Turner Syndrome Market size for years: 2025, 2026, 2027, 2028, 2029 and 2030.

Turner Syndrome Industry Report

Statistics for the 2025 Turner Syndrome market share, size and revenue growth rate, created by Mordor Intelligence™ Industry Reports. Turner Syndrome analysis includes a market forecast outlook for 2025 to 2030 and historical overview. Get a sample of this industry analysis as a free report PDF download.