Physician-facing clinical website

Severe hypoparathyroidism, skeletal disease and orthopaedic complications

A structured English-language portal with direct access to the Medical History, Focused Physician Summary, interactive laboratory trends and source documents.

36-year-old woman APS-1 / APECED phenotype Severe chronic hypoparathyroidism Severe regional osteoporosis Bilateral hip disease

Recommended review order

Focused Physician Summary
Medical History
DXA and hip records
Interactive laboratory trends
Source documents where verification is needed

Start here

The two central documents are presented as full website sections with built-in viewing.

Primary review document

Focused Physician Summary

A concise physician-facing synthesis of the present APS-1 phenotype, current treatment deadlocks and the decisions requested from the expert panel.

Full clinical chronology

Medical History

A complete chronological English-language history from early childhood through the current multisystem decompensation, with the present treatment and unresolved clinical problems.

Clinical sections

Each section has a readable summary and direct access to supporting records.

P

PTH & calcium-phosphate

Severity of PTH deficiency, conventional treatment, phosphorus control and gastrointestinal intolerance.

B

Bone density

DXA 2026, regional pattern, historic skeletal evidence and the need for a coordinated bone plan.

H

Hip & orthopaedics

Developmental dysplasia, avascular necrosis, prior surgery, current X-ray and future arthroplasty planning.

L

Laboratory data

Searchable longitudinal tables and physician-facing trend graphs embedded directly into the site.

Key objective findings

Selected values defining the metabolic-bone burden.

PTH<2.4 pg/mL6 May 2026

Phosphorus3.12 mmol/L6 May 2026, with total Ca 1.82 mmol/L

Lowest DXA regionT-score −5.1Left distal radius, 6 June 2026

Hip diseaseGrade III leftGrade II right, X-ray 7 July 2026

Questions for specialist review

1

Suitability and initiation of palopegteriparatideIncluding starting, titration and monitoring requirements in this clinical context.

2

Possible access pathway to Yorvipath for a patient residing in UkraineNamed-patient, cross-border, manufacturer-supported or ERN-linked route.

3

Role of teriparatidePotential temporary PTH-replacement bridge and/or role in preparation for hip arthroplasty.

4

Optimal treatment sequencePTH replacement, any indicated osteoporosis treatment and hip surgery.

Full clinical chronology

Medical History

Updated 20 July 2026 English Patient-prepared clinical history

This document presents the longitudinal clinical course from infancy through July 2026. It separates documented events from interpretation and includes a comprehensive current-status section.

Early childhood and neurological manifestations
Delayed puberty and primary ovarian insufficiency
Hypoparathyroidism and long-term complications
APS-1 / APECED phenotype and classic triad
Current calcium-phosphate and adrenal treatment
Severe bowel dysfunction and active liver injury
Skeletal disease, hip pathology and current clinical needs

Primary review document

Focused Physician Summary

22 July 2026 3 pages Physician-facing

A short integrated summary designed to be read before the larger document set. It outlines the complete APS-1 phenotype, objective findings, present treatment and the four central treatment deadlocks.

Complete clinical APS-1 / APECED phenotype
Calcium-phosphate / gastrointestinal deadlock
Adrenal-haemodynamic treatment failure
Active hepatic and gastrointestinal involvement
Severe skeletal and orthopaedic disease
Concrete requests for multidisciplinary action

Metabolic-bone section

Hypoparathyroidism, phosphorus control and severe regional osteoporosis

The present question is not limited to correction of serum calcium. It is the need for a sustainable PTH-based strategy that can be coordinated with gastrointestinal tolerance and future hip surgery.

Core source records

DXA dated 6 June 2026
Focused Physician Summary
Inpatient discharge summary
Longitudinal laboratory explorer

6 May 2026Ca 1.82Total calcium, mmol/L

6 May 2026iCa 0.83Ionised calcium, mmol/L

6 May 2026P 3.12Phosphorus, mmol/L

Current conventional regimen

Calcitriol

Approximately 0.75 micrograms/day.

Calcium citrate

1,000 mg/day in divided doses.

Sevelamer

2.4 g/day as phosphate binder.

Unresolved calcium-phosphate / gastrointestinal deadlock.
Conventional treatment can bring calcium into the reference range, but phosphorus remains elevated. Calcium carbonate and later sevelamer markedly aggravate severe pre-existing intestinal dysmotility. During binder withdrawal from 30 June to 2 July 2026, phosphorus rose from 2.28 to 2.81 mmol/L.

DXA — 6 June 2026

Marked regional discrepancy with severe forearm and hip deficits and normal lumbar spine BMD.

Region	T-score	BMD deficit stated in report	Conclusion
Left distal radius	−5.1	50%	Osteoporosis
Left radius combined	−4.7	42%	Osteoporosis
Right distal radius	−4.3	42%	Osteoporosis
Right radius combined	−3.7	33%	Osteoporosis
Left femoral neck / proximal femur	−3.1	41% / 38%	Osteoporosis
Right femoral neck	−3.1	42%	Osteoporosis
Right proximal femur	−2.6	33%	Osteoporosis
Lumbar spine L1–L4	−0.1	1%	Normal BMD

Supporting records

Select a document to review it without leaving the section.

DXA 2026

Complete English translation of bilateral hips, lumbar spine and bilateral forearms.

Historical skeletal evidence

Archived heel QUS and DXA records from 2008, with selected original source pages.

Inpatient discharge summary

Hospitalisation from 30 June to 2 July 2026 with treatment and clinical course.

Orthopaedic section

Developmental hip disease, avascular necrosis and future arthroplasty planning

Structural hip disease must be considered together with the calcium-phosphate disorder, severe regional osteoporosis, glucocorticoid exposure and reduced mobility.

Current X-ray

Grade II osteoarthritis — right
Grade III osteoarthritis — left
Left femoral-head deformity and avascular necrosis
Bilateral valgus deformity

Orthopaedic timeline

Approximately 2018 onwardLong-standing hip pain

The January 2024 discharge summary records a six-year history of pain and failed conservative treatment.

8–12 January 2024Orthopaedic hospitalisation

Diagnosis: aseptic necrosis of the left femoral head.

9 January 2024Beck tunnelling and BMAC

Tunnelling of the left femoral head/neck with BMAC injection into the femoral head and hip joint.

7 July 2026Bilateral hip X-ray

Grade II osteoarthritis on the right, grade III on the left, left femoral-head necrosis and deformity, and valgus deformity.

Current planning needPotential future hip arthroplasty

A coordinated sequence is needed for PTH replacement, any indicated osteoporosis treatment and surgery.

Supporting records

Direct in-section viewing.

2024 surgery

Discharge summary documenting Beck tunnelling and BMAC injection.

2026 hip X-ray

Current bilateral osteoarthritis, deformity and left femoral-head avascular necrosis.

DXA 2026

Regional bone-density context relevant to surgery planning.

Interactive longitudinal laboratory data

Searchable tables, filters and physician-facing trend graphs from 2006–2026.

Document library

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