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Disease

Turner Syndrome

Late-stage therapeutic developmentEmerging research
MeSHTurner Syndrome
2
Publications
13
Clinical trials
2024
Latest publication
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 2 clinical trials with recent milestones (1 completed or reporting results).
Clinical Milestones2View
Results posted 1
Recently completed 1
Activity timeline2

Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Growth Hormoneapproved

Approval — Infants, children and adolescents Growth disturbance due to insufficient secretion of gr… (2006)

Clinical trials

9 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
13
All trials
6
Active
10
Late-stage
6
Completed
Late-stage studies

A Study Evaluating the Safety and Efficacy of Once-weekly Dosing of Somapacitan in a Basket Study Design in Paediatric Participants With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome or Idiopathic Short Stature

Phase 3 · Active, not recruiting · Novo Nordisk A/S

Determining Dose Equivalence Between Oral and Transdermal Estrogen Treatment in Women With Turner Syndrome - A Randomized Study

Phase 4 · Recruiting · Aarhus University Hospital

Bleeding Patterns in Sequential and Continuous Progesterone Supplementation in Adolescents With Turner Syndrome: A Non-randomized Prospective Trial (The BOOST Study)

Phase 4 · Recruiting · Children's Mercy Hospital Kansas City

A Study Comparing the Effect and Safety of Once Weekly Dosing of Somapacitan With Daily Norditropin® as Well as Evaluating Long-term Safety of Somapacitan in a Basket Study Design in Children With Short Stature Either Born Small for Gestational Age or With Turner Syndrome, Noonan Syndrome, or Idiopathic Short Stature

Phase 3 · Active, not recruiting · Novo Nordisk A/S

First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study

Phase 4 · Completed · Merck KGaA, Darmstadt, Germany

A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN®

Phase 4 · Completed · Merck KGaA, Darmstadt, Germany
Recently completed

Effect of Early Growth Hormone Treatment on Long-term Growth and Skeletal Maturation in Girls With Turner Syndrome

Phase 4 · Completed · Eli Lilly and Company

The Growth of Genitalia Interna and the Bone Mineralization Under Hormonal Replacement Therapy and the Presence of Aortic Root Dilatation in Girls With Turner Syndrome

Phase 4 · Completed · Line Cleemann

First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study

Phase 4 · Completed · Merck KGaA, Darmstadt, Germany

Estrogen Dosing in Turner Syndrome:Pharmacology & Metabolism

Phase 4 · Completed · Nemours Children's Clinic

A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN®

Phase 4 · Completed · Merck KGaA, Darmstadt, Germany

Induction of Puberty With 17-Beta Estradiol in Girls With Turner Syndrome. An Open Randomized Trial

Phase 3 · Completed · Novo Nordisk A/S

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2006emaApproval — Growth Hormone· Infants, children and adolescents Growth disturbance due to insufficient secretion of growth hormone (GH). Growth disturbance associated with Turner syndrome. Growth disturbance associated with chronic renal insufficiency. Growth disturbance (current height standard-deviation score (SDS) < -2.5 and parental adjusted SDS < -1) in short children / adolescents born small for gestational age (SGA), with a birth weight and / or length below -2 standard deviations (SDs), who failed to show catch-up growth (height velocity (HV) SDS < 0 during the last year) by four years of age or later. Prader-Willi syndrome (PWS), for improvement of growth and body composition. The diagnosis of PWS should be confirmed by appropriate genetic testing. Adults Replacement therapy in adults with pronounced growth hormone deficiency. Patients with severe growth hormone deficiency in adulthood are defined as patients with known hypothalamic pituitary pathology and at least one known deficiency of a pituitary hormone not being prolactin. These patients should undergo a single dynamic test in order to diagnose or exclude a growth hormone deficiency. In patients with childhood-onset isolated GH deficiency (no evidence of hypothalamic-pituitary disease or cranial irradiation), two dynamic tests should be recommended, except for those having low insulin-like-growth-factor-I (IGF-I) concentrations (SDS < -2) who may be considered for one test. The cut-off point of the dynamic test should be strict. source ↗
2001emaApproval — Growth Hormone· Long-term treatment of children with growth failure due to inadequate endogenous growth hormone secretion. Long-term treatment of growth failure associated with Turner syndrome. Treatment of prepubertal children with growth failure associated with chronic renal insufficiency up to the time of renal transplantation. Replacement of endogenous growth hormone in adults with growth hormone deficiency of either childhood or adult-onset etiology. Growth hormone deficiency should be confirmed appropriately prior to treatment. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20232024
Major themes4
  • Turner Syndrome2
  • Human Growth Hormone1
  • Insulin Resistance1
  • Metabolic Syndrome1
Leading journals2
  • European journal of endocrinology1
  • Frontiers in endocrinology1
Leading researchers8
  • Andersen NH1
  • Backeljauw PF1
  • Barański K1
  • Błaszczyk E1
  • Christin-Maitre S1
  • Davis SM1
  • Duijnhouwer A1
  • Fleischer K1
Affiliations (unnormalised)6
  • Medical University of Silesia2
  • Aalborg University Hospital1
  • Aarhus University Hospital1
  • Center for Rare Diseases1
  • Center of Rare Endocrine Diseases of Growth and Development (CMERCD)1
  • Centre for Pediatric and Adult Diabetes Care and Research1

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Identifiers
MeSHTurner Syndrome
References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.