Endocrine Unit, Department of Internal Medicine, University Hospital of Ioannina, Ioannina, Greece
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Abstract |
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Key words: growth hormone deficiency/hypogonadotrophic hypogonadism/pituitary insufficiency/short stature/Turner's syndrome
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Introduction |
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We describe a unique case of concurrent pituitary insufficiency and Turner's syndrome.
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Case report |
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The present examination, in our institution when the patient was aged 30 years, revealed an overweight young woman (BMI = 28.3 kg/m2), with a central pattern of fat distribution. The patient's height was 148cm (Z-score 2.35). She had a round face with micrognathia and her neck was short without the presence of webs. A number of pigmented naevi were observed in her face and body. Secondary sex characteristics were present and she had cyclic vaginal bleeding while on oestrogen and progestin administration. The rest of the clinical examination was negative.
In order to achieve a global perspective of the patient's problem, in view of lack of complete records of the previous medical history, it was decided to re-evaluate the hypothalamicpituitary axis after discontinuation of current treatment. Consequently, a combined insulin tolerance, GnRH and thyroid releasing hormone (TRH) test was performed and confirmed growth hormone, gonadotrophin and thyrotrophin deficiency, whereas a sufficient response of cortisol was noted suggesting intact function of adrenocorticotroph cells (Table I). Prolactin concentrations were normal. A magnetic resonance imaging (MRI) scan of the hypothalamic and pituitary region revealed hypoplastic pituitary and ectopic localization of the neurohypophysis to the tuber cinereum. Ultrasound sonography of the patient's pelvis showed an hypoplastic uterus whereas the ovaries were not possible to visualize.
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The patient continued substitution therapy with levothyroxine and cyclic administration of conjugated oestrogens and progestagen. She was checked for cardiac and renal manifestations of Turner's syndrome and the results were negative. In addition, future fertility options were discussed and explained to the patient.
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Discussion |
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To our knowledge, there are only four cases of Turner's syndrome associated with hypogonadotrophic hypogonadism in the literature. The first was in a girl with thalassaemia major and pituitary insufficiency was attributed to haemochromatosis (Afonso Lopes et al., 1995). In the second and third cases the hypogonadotrophic hypogonadism was attributed either to an auto-immune process, or to the presence of arachnoidocele (Valenta et al., 1984
), and in a fourth case it co-existed with combined immunodeficiency (Donti et al., 1989
). Thus, our case is unique, in that in our patient Turner's syndrome co-exists with primary pituitary insufficiency and low concentrations of gonadotrophins. Thyroid function is abnormal in 2030% of patients with Turner's syndrome, and is usually associated with Hashimoto's thyroiditis (Pai et al., 1977
). Despite this observation, our patient had secondary hypothyroidism that was apparent during her follow-up for the GH deficiency.
There have been two case reports associating Turner's syndrome with idiopathic diabetes insipidus (Otsuka et al., 1971; Balkin et al., 1978
). Our patient did not have any symptoms indicating the existence of diabetes insipidus and urine-concentrating capacity was normal. The MRI finding of ectopic neurohypophysis and hypoplastic adenohypophysis has been found in a number of patients with hypopituitarism (Badawy et al., 1994; Hamilton et al., 1998
), indicating that pituitary deficiency could be part of a large spectrum of midline brain abnormalities. Turner's syndrome is known to be associated with congenital malformations but, to our knowledge, the association with this specific anatomical abnormality is the first to be described.
The revelation of the 45,X gonadal dysgenesis in this young woman was crucial. First, because of the existence of Turner's syndrome, a thorough evaluation of cardiac and renal deformities was imperative in order to rule out abnormalities necessitating special care. Second, because the approach in regard to fertility problems differs between these two situations: in hypogonadotrophic hypogonadism, pregnancy can be achieved by ovulation induction, whereas in Turner's syndrome it could only be achieved with donated eggs.
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Notes |
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References |
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Submitted on April 6, 2000; accepted on July 14, 2000.