Kazuko Hizukuri

Bilateral Asynchronous Adrenocortical Adenoma in a Girl with Beckwith-Wiedemann Syndrome

We report a case of asynchronous occurrence of bilateral adrenocortical adenoma in a 13-yr-old girl with Beckwith-Wiedemann syndrome. A right virilizing adrenal adenoma was surgically removed at age 6, following clinical manifestation of virilization such as acne, voice change, clitoris hypertrophy and overgrowth. Histopathological examination of the resected specimen revealed an adrenocortical adenoma predominantly composed of eosinophilic tumor cells expressing all the steroidogenic enzymes. High serum levels of DHEA-S (6,380 ng/ml) and testosterone (547 ng/dl) were noted prior to the operation. Postoperative course was unremarkable. Menstruation started at age 11, with a regular interval. At the age of 13 yr old, a high serum level of DHEA-S (8,250 ng/ml) was detected. In contrast to the episode of virilization at age 6, however, the serum testosterone level was not so high (122 ng/dl), and no clinical symptoms of virilization were apparent. Abdominal ultrasonography demonstrated the presence of a left adrenocortical adenoma. Pathological examination of the resected specimen revealed a circumscribed and well encapsulated tumor with essentially the same histological features as the tumor previously removed, except that the tumor cells showed a more prominent morphological similarity to the fetal adrenal cortex and did not express 3β HSD. The absence of virilization at the second episode was due to the relatively low serum level of testosterone compared with that of DHEA-S.

Two cases of atrophic thyroiditis with unilateral low radioiodine uptake on the right lobe in thyroid scintigram

An 11-year-old boy was first referred to Kagoshima University Hospital, Kagoshima, Japan, because of his short stature. A decrease in his growth velocity started at the age of 4 years (Fig. 1a). The patient also had constipation. His height was 111.7 cm (–4.0 standard deviation [SD]), and his weight was 22.5 kg (–2.0 SD). Struma was not detected, and his urogenitalia was at the prepubertal stage. Laboratory data revealed severe hypothyroidism (free thyroxine 4 [FT4] 0.19 ng/dL, thyrotropin [TSH] 1034 μ IU/mL). A thyroid test was positive (1600 × ), as was a microzome test (1600 × ). TSH-binding inhibitor immunoglobulins were negative. The patient’s insulin-like growth factor 1 [IGF-1] levels were 65.9 ng/mL. Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) levels were revealed to be prepubertal (0.4 mIU/mL and 4.0 mIU/mL). No abnormalities were noted in the peripheral blood. Mildly high levels of total cholesterol (T-cho; 269 mg/dL) were noted in the biochemistry. The patient’s bone age was 4 years by the Tanner–Whitehouse II (TW II) method, and he had mental retardation (IQ 63) by Suzuki Binet test. Reduced 123 I uptake of the right lobe and swelling of the left lobe were observed in thyroid scintigram (Fig. 2a). The results from the echography of the thyroid, right lobe, showed atrophic change and high intensity (Fig. 2b).

A Case with Hyperthyroidism Who Had Been Treated with Thyroid Hormone Because of Congenital Hypothyroidism

We encountered a case with hyperthyroidism at the age of 14 who had been diagnosed with congenital hypothyroidism (CH) and had received thyroid hormone replacement therapy. At the age of 16 d, the patient was referred to our hospital because of positive results at neonatal screening for CH. Serum level of TSH was 91.0 μU/ml and serum level of T4 was 6.9 μg/dl. The patient was diagnosed as having hypothyroidism, and hormone replacement therapy was started. Thereafter the dosage of thyroid hormone was adjusted and increased gradually as he grew to a maximum dose of 110 μg/day at the age of 11. Until the age of 13, the patient’s serum levels of TSH were within the normal range; then, at the age of 13 yr and 4 mo, his serum level of TSH dropped to a level below the detectable range. The dosage of administered thyroid hormone was tapered off and eventually eliminated at the age of 14. A thyroid scan and a radioactive iodine uptake test demonstrated a diffuse goiter with homogeneous uptake of radioactive iodine; the uptake rate was 60% at 24 h, and the serum level of TSH receptor antibody (TRAb) was 62.5% at that time. Administration of an antithyroid drug was started after confirmation that our patient had developed hyperthyroidism. There have been no case reports similar to our case.

Retrospective Analysis of Infants Designated as Positive on Mass-Screening for Congenital Hypothyroidism at Kagoshima University

Mass-screening for congenital hypothyroidism has identified cases of mild hypothyroidism, transient hypothyroidism, and transient hyperthyrotropinemia as well as typical hypothyroidism. In this paper, we examine the clinical data of the cases found positive in the screening test at our hospital. From 1989 to 1999 there were 72 patients with positive screening tests who started levothyroxine sodium (l-T4; Thyradin-S) as supplement therapy. At the age of 3 to 4 yr the patients were re-evaluated to determine whether treatment should be continued. Thyroid scintigraphies were done at the same time. We divided these cases into 4 groups. Those in group 1A started l-T4 in early infancy without a TRH test because of obvious clinical evidence of hypothyroidism, and treatment was continued after re-evaluation (n=37). Those in group 1B also started treatment in early infancy without a TRH test, but treatment was discontinued after re-evaluation (n=20). Patients in group 2A started l-T4 after evaluation by a TRH test and treatment was continued after re-evaluation (n=14), while those in group 2B started treatment after a TRH test, but after re-evaluation, treatment was discontinued (n=1). In group 2A, only a low dose of l-T4 was needed, and a slightly elevated TSH and slightly decreased free T4 (FT4) were observed after the drug washout period. However, these patients had an exaggerated response to the TRH test at re-evaluation. These findings indicate that this group, forming not a small part of whole screening-positive subjects, had mild hypothyroidism. Such patients require careful follow-up and repeated evaluation to determine whether treatment should be continued.