Indolent ulcers of leg and foot in Klinefelter's syndrome associated with straight back syndrome

K Muhammed, B Sofia

 Department of Dermatology and Venereology Medical College, Kozhikode - 673 008, Kerala, India

Correspondence Address:
K Muhammed
Department of Dermatology and Venereology Medical College, Kozhikode - 673 008, Kerala
India

Introduction

Seminiferous tubule dysgenesis (Klinefelter′s syndrome) is a common cause of primary hypogonadism and male infertility (hypergonadotrophic hypogonadism). This syndrome, usually manifesting after puberty, is characterized by firm small testes, azospermia, gynaecomastia, sparse body hair, tallness and elevated levels of plasma gonadotrophins (especially plasma FSH) in men with two or more X chromosomes. Associated abnormalities are thyroid dysfunction (10%), diabetes mellitus (8%), cancer of the breast (ductal carcinoma), germ cell tumour of mediastinum, osteoporosis (25%), chronic pulmonary disease and chronic venous and arterial leg ulcers and varicosities.[1] The prevalence of varicose veins in these patients is higher than in normal men. We are reporting a case of indolent foot and leg ulcers in Klinefelter′s syndrome associated with straight back syndrome.

Case Report

A 30 - year-old married man was admitted with non healing ulcers on both feet and legs of about 6 months duration [Figure - 1]. There were four ulcers, two each on either lower limbs measuring from 6 x 3 cms to 10 x 6 cms, the floor of the ulcer was covered with slough, which was non indurated and not fixed to deeper structures [Figure - 2]. Surrounding these ulcers, multiple hyperpigmented atrophic scars of healed ulcer were seen on both feet and legs. Varicose veins were present on both legs. The left foot showed extension of metatarsop- halangeal joints and flexion at proximal interphalngeal joints of second toe. This was an ill - built, poorly nourished (weight 42 kg), tall (height 173 cm) patient with absence of beard and moustache, sparse axillary and pubic hairs and bilateral gynaecomastia. Upper segment to lower segment ratio of height was 1:1.26 (normal 1:1 to 1:1.1). Arm span was 17.7 cm. The size of testes was diminished (length of testes - right 1.5 cm; left 0.75 cm, normal being > 3.5 cm). Systemic examination was within normal limits except a flat chest and an ejection systolic murmur of grade Ill in the pulmonary area. Chest roentgenogram showed prominent pulmonary artery and features suggestive of straight back syndrome. [Figure - 3] Doppler echo study showed no organic cardiac lesions. He had no offsprings. His base line blood and urine investigations were within normal limits. Buccal smear for Barr body (chromatin) was positive in 10% cells. Semen analysis showed azospermia, serum FSH was raised (40.25 mI/U ml) and serum testosterone level was reduced (150 ng/dl). Doppler study of lower limb vessels showed normal flow. Pus culture from the ulcer showed the growth of Pseudomonas aeruginoso, which responded well to ceftazidime. He was treated with inj testosterone 100 mg once in two weeks. The ulcers healed with daily dressing and bed rest.

Discussion

Our case had all typical features of Klinefelter′s syndrome.

With the onset of puberty, testicular histology becomes abnormal and testosterone synthesis is impaired. In the postpubertal patients the plasma concentration of testosterone tend to be low, the levels of plasma estradiol are normal or increased and gonadotrophins (FSH) levels are elevated. Potency is usually diminished in the adult, and Leydig cell reserve is impaired. Gynaecomastia, which occurs in about 90% patients, is considered to be secondary to an increased ratio of serum estradiol to testosterone. The testicular failure in Klinefelter′s syndrome appears to progress with age in the form of diminished facial and body hair, a female escutcheon, a small phallus and poor muscular development. After pubescence, the testes are small in size and firm in consistency due to hyalinisation of seminiferous tubules and fibrosis. Our patient had almost all the features mentioned above. He presented with indolent leg and foot ulcers associated with varicose veins. The incidence of chronic venous insufficiency and hypostatic leg ulcers is more in Kilnefelter′s syndrome. Local fibrinolytic parameters are involved in this. An abnormality in platelet aggregability or fibrinolysis, elevated activity of plasminogen activator inhibitor -1 (PAI -1), has been recently documented in patients with Kilnefelter′s syndrome associated with leg ulceration.[2] It seems likely that androgens may protect against leg ulcer development. Both venous and arterial vascular disease seem to be associated with Klinefelter′s syndrome and should be considered in men presenting with chronic leg and foot ulcers.

Abnormalities of the shape of the thorax are a common cause of flow murmurs (grade 3 and 4). Straight back syndrome (pseudo heart disease) is due to the narrowing of the anteroposterior diameter of the bony thorax, confirmed by lateral X-ray film. The normal thoracic kyphosis will be absent (hypokyphosis). In the anteroposterior view of the chest X - ray, most of the heart shadow will be on the left side normally only 3/4th will be on left side).[3] There will be impairment of respiratory functions and ECG will show right bundle branch block and anterior T wave depression in V - leads. Parentral androgens are more effective in inducing virilization and are safer than oral or topical preparations. With testosterone enanthate in oil 100mg, intramuscularly every two weeks and proper management, the ulcer healed well with scarring in our patient. But gynaecomastia remained the same.

1.	Grumbach MM, Conte FA. Disorders of sex differentiation. In: Williams Textbook of Endocrinology, Ed.9, WB Saunders Company, Philadelphia USA 1998;1331-1334. [Google Scholar]
2.	Zollner TM, Veraat JC, Wolter M, et al. Leg ulcers in Klinefelter's syndrome - further evidence for an involvement of plasminogen activator inhibitor-1. Br J Dermatol 1997;136-344. [Google Scholar]
3.	Raphael MJ, Donaldson RM. The normal heart. Methods of examination. In: Textbook of Radiology and Imaging. Ed. 6, David Sutton, Churchill Livingston, New York 1968;564. [Google Scholar]