X-linked hypophosphatemia

Actionability Pediatric Summary Report

Secondary Findings in Pediatric Subjects. Non-diagnostic, excludes newborn screening & prenatal testing/screening.

• Gene: PHEX (HGNC:8918)
• Mode(s) of Inheritance: X-linked
• Literature Search: 03/02/2026
• Curation Status: Released (2.0.0)

Assertions and Scores

Actionability Assertions

Gene	Condition (MONDO ID)	OMIM ID	Final Assertion
PHEX	X-linked dominant hypophosphatemic rickets (0010619)	307800	Strong Actionability

Actionability Assertion Rationale

• The majority of experts agreed with the assertion computed according to the rubric, with some experts favoring a definitive assertion. We are extrapolating long-term outcomes based on the early evidence that is available. It is likely that accumulating evidence from longer treatment courses and from patients treated earlier in disease course will further clarify actionability.

Actionability Scores

Outcome / Intervention Pair	Severity	Likelihood	Effectiveness	Nature of Intervention	Total Score
Morbidity due to X-linked hypophosphatemia / Referral to specialists for surveillance and consideration of burosumab treatment	2	2C	3B	3	10CB

Severity of Outcome

Prevalence of the Genetic Condition

The population prevalence of X-linked hypophosphatemic rickets (XLH) is approximately 1 in 20,000 with an incidence of 1.33 – 5 per 100,000 live births. XLH is the most common genetic condition associated with hypophosphatemic rickets; a recent population-based cohort study estimated the prevalence of XLH in children at 15.1 (95% CI 11.3-20.1) per million and in adults 15.7 (95% CI 11.8-20.9) per million. Lower prevalence rates ranging from 1.3 to 1.7 in 100,000 have been reported, which are likely underestimates due to misdiagnosis.

Clinical Features (Signs / symptoms)

The phenotypic spectrum of XLH ranges from isolated hypophosphatemia to severe lower extremity bowing with a decrease in height velocity after the child starts ambulating and the characteristic clinical signs of rickets. Additional characteristic features in children include recurring dental abscesses, growth delay, impaired muscle strength and endurance, delayed motor milestones, bone pain, and sometimes osteomalacia-related fractures or pseudofractures. Children may have dolichocephaly due to craniosynostosis and scoliosis. Adults may present with calcification of the tendons, ligaments, and joint osteomalacia, lower limb deformity, muscle weakness, pain, fatigue, dental complications, insufficiency fractures, and impaired mobility. Adults with XLH have a significantly reduced final height and may develop osteoarthritis of the lower limbs. Rarely, individuals with XHL experience spinal stenosis, Chiari I malformation, syringomyelia, and or raised intracranial pressure. Cranial abnormalities may be asymptomatic or associated with headaches, vomiting, papilledema, and neurologic symptoms. Sensorineural hearing loss has been reported, sometimes beginning in childhood, and is frequent in adulthood. Tinnitus is frequent, even in childhood.

Natural History (Important subgroups & survival / recovery)

Children with XLH are born with average length. Growth velocity begins to deviate from the norm at 6 months of age, and reduced growth is evident by 1 year and persists throughout childhood until final height. XLH typically manifests in the first two years of life with lower-extremity bowing due to the onset of weight bearing. However, it sometimes does not manifest until adulthood as previously unevaluated short stature. XLH progresses throughout the lifespan. The clinical and biochemical features of XLH are generally similar in males and females. One study reported an increased risk of mortality in older adults with XLH (hazard ratio: 2.93; 95% confidence interval: 1.24-6.91).

Likelihood of Outcome

Mode of Inheritance

X-linked

Prevalence of Genetic Variants

Unknown

No information on prevalence of pathogenic variants causing XLH was identified.

Pathogenic variants in PHEX can be detected in 85-100% of individuals with XLH.

Tier 3

Penetrance (Includes any high-risk racial or ethnic subgroups)

>= 40 %

Penetrance is often said to be 100%. There is no known difference between penetrance in males and females

Tier 3

>= 40 %

The most frequent kidney complication in children with XLH is medullary nephrocalcinosis, reported in 17%-100% of individuals on conventional therapy.

Tier 3

>= 40 %

The frequency of select features seen in children with XLH is as follows:

• Short stature: 50-85%

• Lower limb bowing: 70-100%

• Bone and joint pain: 50-80%

• Dental complications: 40-75%

• Need for surgical interventions (most commonly osteotomies, joint replacement surgery, skull surgery): 40-50%

• Hearing loss and/or tinnitus: 2-8%

Tier 3

>= 40 %

The frequency of select features seen in adults with XLH is as follows:

• Bone and joint pain: 70-100%

• Enthesopathy: 70-100%

• Dental complications: 60-85%

• Need for surgical interventions (most commonly osteotomies, joint replacement surgery, skull surgery): 60-95%

• Fractures: 20-50%

• Hearing loss and/or tinnitus: 14-55%

Tier 3

Relative Risk (Includes any high-risk racial or ethnic subgroups)

Unknown

No information on relative risk was identified for XLH.

Expressivity

Individuals with XLH have variable expressivity.

Tier 3

The severity can differ among members of the same family; however, males are not necessarily more severely affected. The characteristics and severity of XLH vary from patient to patient with a wide range of signs and symptoms, which differ not only between pediatric and adult patients, but also between patients within the same age group, and even within the same family.

Tier 4

Several studies have evaluated genotype-phenotype correlations in XLH. Overall, however, there is little consistent evidence for genotype-phenotype correlations in XLH.

Tier 3

Intervention Effectiveness

Patient Management

For initial assessment of XLH, the following evaluations are recommended in children:

• Measuring standing height (recumbent length in children ≤ 2 years), weight, head circumference, and blood pressure measurements expressed as percentiles or Z scores (in addition to an overall pediatric physical examination).

• Assessing pain through age-appropriate clinical interviews and caregiver report

• Measuring serum phosphorus, calcium corrected for albumin or ionized calcium, ALP, 1,25-dihydroxyvitamin D, 25-hydroxyvitamin D, kidney function (creatinine, eGFR), PTH, spot urine calcium/creatinine ratio (or a 24-hour urine calcium excretion adjusted for weight -normal <4 mg/kg/day- may supplement spot testing in complex cases), and spot urine phosphorus/creatinine for calculation of TRP or TmP/GFR.

• Baseline imaging including x-rays of long bones (eg, supine AP of lower extremities for children unable to stand; standing lower extremity views for those able to stand without assistance)

• Renal ultrasound to screen for nephrocalcinosis

• Dental assessment including bitewings and/or periapical x-rays, or orthopantomogram, for children ≥ 6 years old, to screen for enlarged pulp chambers, prominent pulp horns, and pulp necrosis

• Hearing evaluations

• Evaluation including brain/spine MRI in those with skull morphology in favor of craniosynostosis or clinical signs of increased intracranial pressure (persistent headaches or vomiting).

Tier 2

For initial assessment of XLH, the following evaluations are recommended in adults:

• Standing height, weight, and BMI measurements

• Blood pressure measurements

• Musculoskeletal examination for bony tenderness and range of motion

• Measurements of serum phosphorus, calcium corrected for albumin, ALP, 25-hydroxyvitamin D, kidney function (creatinine, eGFR), TmP/GFR, PTH, 24-hour urine calcium and creatinine (or spot urine calcium and creatinine), 24-hour urine phosphorus and creatinine

• Baseline bone mineral density assessment

• Baseline dental assessment with periapical x-rays or orthopantomogram to screen for enlarged pulp chambers, pulp necrosis, and periapical bone loss.

• A skeletal survey using plain x-rays is advised to detect asymptomatic pseudofractures

• Hearing evaluation

• Evaluation including brain/spine MRI in those with skull morphology in favor of craniosynostosis or clinical signs of increased intracranial pressure (persistent headaches or vomiting).

Tier 2

All patients with XLH should have a multidisciplinary care team (including providers with expertise in metabolic bone disease, nephrology, endocrinology, rheumatology, genetics, ophthalmology, otorhinolaryngology, neurosurgery, orthopedics, maxillofacial surgery, physical medicine and rehabilitation, physiotherapy, dentistry, psychology, social work, nutrition) with an emphasis on the management of the needs of the patient.

Tier 2

It is recommended that ongoing care be provided by an expert in metabolic bone disease who recognizes the importance of multidisciplinary services at the transition to adulthood.

Tier 2

Burosumab therapy is recommended in children 12 months of age and older with XLH, over conventional therapy (active vitamin D and phosphate salts). In children 6-12 months of age with XLH, burosumab therapy is suggested over conventional therapy (active vitamin D and phosphate salts).

Tier 1

A systematic review identified one RCT (n=61 children with XLH) and one post hoc study (subset of the 61 children aged 5 years or older) comparing burosumab to conventional therapy or no treatment. Given the rarity of this disease, direct evidence concerning how therapy impacts several outcomes important to patients is scarce. It is probable that burosumab, compared to conventional therapy, prevents lower limb deformity, supported by 70% more children achieving healing of rickets at 64 weeks in the burosumab group. Findings suggested that burosumab, compared to conventional therapy, may improve height (MD 0.14 SD higher). The impact on pain and mobility was uncertain. Higher scores were reported by caregivers for physical health quality of life.

Tier 1

Burosumab therapy is recommended in adults with fractures or pseudofractures over no therapy. In adults without fractures or pseudofractures burosumab therapy is suggested over no therapy. In adults with fractures or pseudofractures, burosumab therapy is suggested over conventional.

Tier 1

A systematic review identified one RCT (n=134 adults with XLH) of whom 68 were randomized to receive burosumab and 66 received placebo (no treatment). Among patients in the placebo group, 72.7% had undergone conventional therapy before reaching the age of 18 years, vs 66.2% in the burosumab group. Due to the rarity of this disease, direct evidence on the impact of therapy on patient-important outcomes is limited. Burosumab probably improves pain from fracture/pseudofracture healing (35% more fractures healed with burosumab) but has little or no impact on direct pain measures. Burosumab may reduce the need for parathyroidectomy but has little or no impact on fatigue, stiffness, and mobility over 24 weeks.

Tier 1

Another systematic review included 9 studies with a total of 358 patients with XLH (206 pediatric and 152 adults). Among the pediatric patients, 109 received burosumab and 97 received conventional therapy. The combined mean age at recruitment in studies of pediatric patients was 6.8 ± 2.9 years. Burosumab resulted in normalization of phosphate homeostasis with an increase in rental tubular phosphate reabsorption and significant resolution of skeletal lesions (change in Thacher’s total rickets severity score SMD: -1.46, p<0.001), improvement in deformities and decline in serum alkaline phosphatase levels. Conventional therapy led to similar improvements in all these parameters but to a lower degree. In adults, burosumab normalized phosphorus levels (SMD: 1.23, p<0.001) with resultant clinical improvement.

Tier 1

If burosumab is not available, children and symptomatic adults should be treated with conventional therapy (active vitamin D, usually combined with phosphate salts). Conventional therapy is advised over no treatment. Active vitamin D can be administered with or without phosphate salts, but phosphate salts should not be used as monotherapy.

Tier 2

A systematic review found one retrospective observational study in children (n-43) assessing conventional therapy (good compliance) vs no treatment (poor compliance) and notes it was at high risk of bias, providing very low certainty evidence regarding the impact of conventional therapy on final height.

Tier 1

Two observational studies (n=8 adults and n=27 adults) on conventional therapy vs no treatment had high risk of bias and very low certainty regarding the impact of conventional therapy on patient-important outcomes

Tier 1

Interventions aimed at reducing bone and joint pain, deformity, stiffness, muscular weakness and improving walking distance and physical function are recommended. These interventions include non-specific measures including the use of physiotherapy, analgesics (for example, short periods of use of NSAIDs), intra-articular joint infiltrations (in the presence of degenerative changes), rehabilitation, physical activity and non-pharmacological treatment of pain.

Tier 2

Early referral to the spinal team with physiotherapy is recommended for adults in cases of spinal scoliosis.

Tier 2

Dental recommendations for children include:

• Performing a thorough clinical and radiological dental investigation searching for spontaneous pulp infection (abscess, tooth color changes, fistula, swelling, cellulitis, pain, periapical bone loss).

• Performing cone-beam computed tomography assessment in selected cases to better evaluate suspected dental anomalies or the presence and extent of dento-alveolar infection.

• Sealing pits and fissures with flowable resin composite on both temporary and permanent teeth as soon and as frequently as required is advised.

• Medical therapy (with either burosumab or phosphate and active vitamin D) should be started prior to initiation of any required orthodontic treatment.

Tier 2

Dental recommendations for adults include:

• Performing a thorough clinical and radiological assessment searching for spontaneous pulp infection (tooth color changes, fistula, swelling, abscess, cellulitis, pain, periapical bone loss), and periodontitis.

• Performing a dental orthopantomogram (radiograph of the upper and lower jaw and teeth), potentially complimented or replaced with cone-beam computed tomography imaging, in patients with recent oral manifestations, which can be repeated based on individual needs.

• Implant surgery may be performed after 3 to 6 months of medical treatment (conventional therapy or burosumab), which should be continued for 6 months following implant surgery; healing time should be extended up to 6 months.

Medical therapy (with either burosumab or phosphate and active vitamin D) should be started prior to initiation of any required orthodontic treatment.

Tier 2

Recommendations vary regarding the use of recombinant human growth hormone (rhGH) for children with XLH and short stature. One guideline states routine use is not advised due to limited benefit noted in RCTs. Another guideline states that rhGH therapy may be an option for improving linear growth in children with severe short stature, on a case-by-case basis.

Tier 2

A systematic review found two studies (n=20 children aged between 2.5 and 9 years) to determine whether rhGH therapy for children with XHL is associated with changes in longitudinal growth, mineral metabolism, endocrine function, renal function, bone mineral density and body proportions. Both included studies found that rhGH may have improved height. However, they found that there was not enough high-certainty evidence to recommend the use of rhGH therapy in children with XLH.

Tier 1

The following assessments are recommended during preconception, pregnancy and lactation:

• Providing genetic counseling to all women of childbearing age, including adolescents, regarding the inheritance of XLH and the risk of transmission.

• Counseling women of childbearing age (including adolescents) who are treated with burosumab or conventional therapy (phosphate salts and active vitamin D) regarding the limited evidence of the risks and benefits associated with these treatments. Some guidelines recommend discontinuing burosumab when pregnancy is planned or identified and initiating conventional treatment.

• Optimization/normalization of serum corrected calcium, and vitamin D levels preconception, during pregnancy, and while breastfeeding. This may involve considering surgical intervention pre-conception in cases of existing tertiary hyperparathyroidism.

• In the presence of neurological deficit, conduct a comprehensive neurological clinical examination

• Measurement of serum total calcium (albumin corrected) or ionized once every trimester for all women; serum creatinine and eGFR measurement monthly for women on medical therapy; and fasting serum phosphorus at least once during pregnancy for all women.

• Normalization of bone-specific alkaline phosphatase (BsALP) by ensuring adequate calcium intake, active vitamin D, and native vitamin D supplementation during pregnancy.

• Close monitoring of serum corrected calcium during lactation with modifications of active vitamin D in cases with existing secondary/tertiary hyperparathyroidism, as hypercalcemia may worsen due to rises in parathyroid hormone-related protein (PTHrP).

Tier 2

It is recommended that physical activity in patients with XLH should be supported and adapted to the patient’s ability. Caution with higher-impact (contact sports, running, jumping) and higher-torsion (gymnastics, wrestling, tennis) activities, paired with lesser-impact activities (swimming, cycling, climbing, yoga, dance, martial arts), is prudent for lifespan health and overall.

Tier 2

Surveillance

Follow-up assessment is recommended in all children from infancy to adolescence (intervals differ by recommendation and guideline) and includes the following:

• Standing height (recumbent length in children ≤ 2 years), weight, head circumference, and blood pressure measurements expressed as age- and sex-matched percentile or Z-score

• Physical examination for skeletal deformities in children ≥ 6 months old

• Growth velocity measurements for children up until the time of epiphyseal fusion (adult height attainment)

• Documentation of dental infections or maxillofacial cellulitis history

• Measurements of serum phosphorus, calcium corrected for albumin or ionized calcium, ALP, kidney function (creatinine, eGFR), PTH, spot urine calcium/creatinine, morning spot urine phosphorus/ creatinine

• Measurements of circulating 25-hydroxyvitamin D

• Renal imaging by ultrasound annually, or less frequently to screen for nephrocalcinosis

• Knee/hand-wrist x-rays to evaluate for rickets or rachitic changes, as clinically indicated.

• Targeted x-rays to assess for fractures or joint damage, in the presence of localized pain

• Dental visit in all children ≥ 1 year old (after tooth eruption) every 6 months to prevent and treat dental infections.

• Periodic hearing evaluations

• Psychological consultation

• Cardiac ultrasound (if elevated and persistent BP is documented)

• Brain/spine MRI (in presence of craniosynostosis or skull shape malformation, headache, neurological symptoms or visual disturbances, or suspected spinal stenosis based on clinical symptoms).

Tier 2

Follow-up assessment is recommended at various intervals (intervals differ by recommendation and guideline) in all adults and includes the following:

• Pain assessment

• Clinical assessment of fractures or pseudofractures by obtaining fracture history as well as physical examination for tenderness of regions with reported bone pain.

• Weight, standing height, and BMI measurement

• Blood pressure measurement

• Documentation of dental infections (abscesses or periodontitis) by history

• Measurements of serum morning (fasting) phosphorus, total corrected or ionized calcium, ALP, creatinine or eGFR, PTH, 25-hydroxyvitamin D, spot urine phosphorus/creatinine ratio, spot urine calcium/creatinine ratio

• Dental assessment to screen for infections as well as periodontal support care

• Clinical physical examination for skeletal deformity, osteoarthritis, and joint restriction

• Renal imaging, preferably with renal ultrasound

• Skeletal survey or x-rays to screen for fractures or pseudofractures, in the presence of bone pain

• Psychological consultation (based on clinical symptoms)

• Hearing assessment

• Cardiac ultrasound (if elevated and persistent BP is documented)

• Brain/spine MRI (in presence of craniosynostosis or skull shape malformation, headache, neurological symptoms or visual disturbances, or suspected spinal stenosis based on clinical symptoms).

Tier 2

Circumstances to Avoid

No circumstances to avoid related to primary manifestations were identified.

Nature of Intervention

Nature of Intervention

Burosumab doses in children are administered as a subcutaneous injection every 2 weeks. In adults, burosumab is administered every 4 weeks. Monitoring of burosumab requires frequent laboratory testing for both safety and efficacy. Local site injection reactions such as urticaria are common but appear minor based on available data. Hyperphosphatemia may rarely occur; this requires an immediate dose adjustment. Occasionally patients have reported transient generalized bone pain at the onset of therapy. Restless leg syndrome has been noted as an adverse event. The bulk of the current evidence suggests that the risks of hyperparathyroidism and nephrocalcinosis may be less with burosumab than with conventional therapy, although that experience is not universal.

Context: Adult Pediatric

A systematic review reported that burosumab probably increases adverse events in children occurring for the first time after the administration of burosumab compared to conventional therapy (38% more adverse events with burosumab [95% CI, 14-60 more]). These include injection site reactions, hypersensitivity, and gastrointestinal side effects. Burosumab may also increase dental abscesses compared to conventional therapy, as observed in the trial over 64 weeks (19% more children with dental abscesses in the burosumab group [95% CI, 1 fewer to 37 more]). There were no serious adverse events requiring discontinuation of therapy. In adults, one study reported no serious adverse events with burosumab over 24 weeks; however, burosumab may increase adverse events such as restless leg syndrome, limb discomfort, muscle cramps, and headaches with a best estimate of 4% greater incidence. Conventional therapy with phosphate salts is usually divided into 3 to 4 doses daily. Phosphate supplementation is often limited by unpleasant taste, gastrointestinal tolerability issues, including dyspepsia, and a laxative effect. Complications of conventional therapy include secondary and tertiary (hypercalcemic) hyperparathyroidism, nephrocalcinosis, and CKD. Conventional therapy requires frequent laboratory monitoring for toxicity and efficacy, and appropriate dose adjustments.

Context: Adult Pediatric

Chance to Escape Clinical Detection

The extremely variable presentation may lead to misdiagnosis or delay in diagnosis with reports of the diagnosis not being made until adulthood, which may manifest as previously unevaluated short stature. Adults with XLH may have normal serum ALP despite frank hyposphosphatasia and active osteomalacia. In adults, osteomalacia is evidence upon biopsy of untreated patients even in the face of minimal clinical complaints. The lack of recognition of XLH symptoms during adulthood delays appropriate treatment.

Context: Adult Pediatric

Tier 3

Gene Condition Association

Gene			Condition Associations
			OMIM Identifier	Primary MONDO Identifier	Additional MONDO Identifiers
			PHEX			307800	0010619

References List

Ali DS, Carpenter TO, Imel EA, Ward LM, Appelman-Dijkstra NM, Chaussain C, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rao C, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi ML, Khan AA. (2025) X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline. The Journal of clinical endocrinology and metabolism. 110(1945-7197):2055-2070.

Ali DS, Mirza RD, Alsarraf F, Hussein S, Abu Alrob H, Appelman-Dijkstra NM, Beck-Nielsen SS, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Cohen-Solal M, Crowley RK, Dandurand K, Florenzano P, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Imel EA, Jan de Beur SM, Lehman A, Lewiecki EM, Morgante E, Ward LM, Khan AA, Guyatt G. (2025) Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Adult Patients With X-Linked Hypophosphatemia. The Journal of clinical endocrinology and metabolism. 110(1945-7197):1767-1780.

Ali DS, Mirza RD, Hussein S, Alsarraf F, Alexander RT, Abu Alrob H, Appelman-Dijkstra NM, Biosse-Duplan M, Brandi ML, Carpenter TO, Chaussain C, Dandurand K, Filler G, Florenzano P, Fukumoto S, Grasemann C, Imel EA, Jan de Beur SM, Morgante E, Ward LM, Khan AA, Guyatt G. (2025) Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients With X-Linked Hypophosphatemia. The Journal of clinical endocrinology and metabolism. 110(1945-7197):1205-1217.

Baroncelli GI, Barale M, Brandi ML, Camozzi V, Carrara S, Nicoletti MC, Castellano E, Cetani F, Comberiati P, Iorgi ND, Eller-Vainicher C, Emma F, Fintini D, Giannini S, Gianotti L, Grandone A, Grassi G, Mora S, Palermo A, Pigliaru F, Pitea M, Procopio M, Rochira V, Ruggeri RM, Ruggiero B, Stagi S, Vezzoli G, Corbetta S. (2025) Experts' consensus on the management and treatment of individuals with X-linked hypophosphatemia across lifespan. Journal of endocrinological investigation. 48(1720-8386):2199-2228.

CARDENAS-AGUILERA, Juan Guillermo et al. Expert consensus on evidence-based recommendations for the diagnosis, treatment, and follow-up of X-linked hypophosphatemic rickets (XLH). Revista Colombiana de Nefrología (2024) URL: http://www.scielo.org.co/scielo.php?script=sci_abstract&pid=S2500-50062024000100013&lng=en&nrm=iso&tlng=en

Dahir K, Dhaliwal R, Simmons J, Imel EA, Gottesman GS, Mahan JD, Prakasam G, Hoch AI, Ramesan P, Díaz-González de Ferris M. (2022) Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus. The Journal of clinical endocrinology and metabolism. 107(1945-7197):599-613.

Dodamani MH, Kumar SC, Bhattacharjee S, Barnabas R, Kumar S, Ranjan Lila A, Samad Memon S, Karlekar M, A Patil V, R Bandgar T. (2024) Efficacy and safety of burosumab compared with conventional therapy in patients with X-linked hypophosphatemia: A systematic review. Archives of endocrinology and metabolism. 68(2359-4292):e230242.

Haffner D, Emma F, Seefried L, Högler W, Javaid KM, Bockenhauer D, Bacchetta J, Eastwood D, Biosse Duplan M, Schnabel D, Wicart P, Ariceta G, Levtchenko E, Harvengt P, Kirchhoff M, Gardiner O, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenický P, Rejnmark L, Linglart A. (2025) Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nature reviews. Nephrology. 21(1759-507X):330-354.

Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML. (2025) X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline. The Journal of clinical endocrinology and metabolism. 110(1945-7197):2353-2370.

Michaël R Laurent, MD, PhD, Pol Harvengt, PhD, Geert R Mortier, MD, PhD, and Detlef Böckenhauer, MD, PhD.. X-Linked Hypophosphatemia. GeneReviews® (1993) URL: http://www.ncbi.nlm.nih.gov/books/NBK83985/

Munns CF, Yoo HW, Jalaludin MY, Vasanwala R, Chandran M, Rhee Y, But WM, Kong AP, Su PH, Numbenjapon N, Namba N, Imanishi Y, Clifton-Bligh RJ, Luo X, Xia W. (2023) Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care. JBMR plus. 7(2473-4039):e10744.

Smith S, Remmington T. (2021) Recombinant growth hormone therapy for X-linked hypophosphatemia in children. The Cochrane database of systematic reviews. 10(1469-493X):CD004447.

Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R. (2022) Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nature reviews. Endocrinology. 18(1759-5037):366-384.