ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2008) 16 P594

The coincidence of Poland syndrome and Turner syndrome

Beata Wikiera1, Elzbieta Wojcik2 & Anna Noczynska1


1Department of Endocrinology and Diabetology for Children and Adolescents, Medical University, Wroclaw, Poland; 2Department of Paediatry, Allergology and Kardiology, Medical University, Wroclaw, Poland.


Poland syndrome (PS) is a defect consisting in unilateral deficiency of the pectoralis major muscle and anomaly of the ipsilateral upper limb, usually in the form of syndactyly or synbrachydactyly. The absence of a nipple and the aplasia of a mammary gland are frequently found. The incidence of PS ranges from 1:7000 to 1:100 000.

The authors present a 5-year-old girl with a very rare coincidence of PS and Turner syndrome. The child was born after 38 weeks of gestation (weight 2400 g, length 49 cm, head circumference 30 cm, 10 points on Apgar scale) with the feet lymphoedema and the right hand anomaly.

At the age of two a marked difference in height between the girl and her peers was observed. The endocrinological consultation was performed after surgical correction of her hand at the age of 3. On physical examination the following were confirmed: height 83 cm (<3 c, −2.4 SDS), weight 10 kg (<3 c), underdeveloped right pectoralis maior muscle and right upper limb, angular all nails placement, cranial disproportion with prominent forehead, small jaw, gothic palate, lower ear settle, systolic hear murmur, clitoris enlargement, condition after syndactyly operation, deformed elbows and knees.

The bone age was delayed half a year. GH max. during nocturnal profile was 5.91 ng/ml, FSH 38.2 mIU/ml, TSH 1.64 uIU/ml, FT4 1.64 ng/dl, IGF 1 27.7 ng/ml.

On the ground of clinical picture PS was diagnosed and the suspicion of Turner syndrome was suggested. The results of genetic examination confirmed the monosomy of X chromosome. The girl started GH treatment at the age of 4.5.

Poland’s anomaly in our patient demands lasting rehabilitation. However, her therapeutic program is more complex because of the coincidence with Turner syndrome.

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