Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis.
OBJECTIVE
To describe a 13-year-old girl with unilateral slipped capital femoral epiphysis (SCFE), who presented with an acute onset limp during follow-up for congenital hypothyroidism and osteopetrosis.


METHODS
We present a case report detailing the patient's history as well as clinical, laboratory, and imaging findings and discuss the related literature.


RESULTS
The patient had been diagnosed elsewhere with congenital hypothyroidism, and levothyroxine therapy was initiated when she was 20 days of age; however, adherence to the treatment was irregular. Both her weight and her height were below the 5th percentile, her breast development and pubic hair were consistent with Tanner stage 1, and she had mental retardation and atypical facies. Her gait was antalgic; no muscle atrophy or shortness in the affected leg was present. On laboratory investigation, thyroid function tests were concordant with primary hypothyroidism. Her bone age was estimated as 8 years. Dual-energy x-ray absorptiometry revealed increased bone mineral density. Radiographic studies disclosed striking opacity of the bones of the pelvis and sclerosis at the skull base. Computed tomography of the affected left lower limb showed a fragmented appearance of the capital femoral epiphysis and thickening and irregularities of the physis line on the left, consistent with SCFE.


CONCLUSIONS
We underscore the possible facilitator role of osteopetrosis in the pathogenesis of SCFE, suggest the need to consider SCFE in the differential diagnosis when a lower extremity abnormality is detected in patients with congenital hypothyroidism or delayed puberty (or both), and emphasize this association with osteopetrosis.
Department of Pediatric Endocrinology, Gulhane Military Medical Academy, Ankara, Turkey. ayhanabaci@gmail.com
Ayhan
A
Abaci
Mehmet Emre
ME
Taşcilar
Mehmet Sahin
MS
Ugurel
Ediz
E
Yesilkaya
Zafer Ünsal
ZÜ
Coskun
Cemil
C
Yildiz
D000293:Adolescent; D003409:Congenital Hypothyroidism / Q000150:complications* / Q000188:drug therapy; D003937:Diagnosis, Differential; D004839:Epiphyses, Slipped / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D005260:Female; D005270:Femur Head / Q000000981:diagnostic imaging / Q000293:injuries* / Q000473:pathology; D006620:Hip Fractures / Q000150:complications* / Q000000981:diagnostic imaging; D020249:Hormone Replacement Therapy; D006801:Humans; D051346:Mobility Limitation; D010022:Osteopetrosis / Q000150:complications*; D011628:Puberty, Delayed / Q000150:complications; D012307:Risk Factors; D012598:Sclerosis / Q000000981:diagnostic imaging / Q000473:pathology; D019291:Skull Base / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed