Extraovarian steroid cell tumor 'not otherwise specified' as a rare cause of virilization in twelve-year-old girl.

BACKGROUND: We present a 12-year-old girl with a 5-year history of progressive virilization. RESULTS: Regarding elevated plasma levels of 17-hydroxyprogesterone (17-OHP) and androgens, normal ultrasound and CT scan of ovaries and adrenal glands, the nonclassic form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was presumed the cause of virilization. As the glucocorticoid therapy did not normalize high levels of 17-OHP and androgens, and the DNA analysis did not demonstrate a mutation causing CAH, a laparotomy was performed. Near the right ovary a tumor was found and extirpated. Pathohistological studies determined it to be a rare steroid cell tumor, 'not otherwise specified'. Within the next months the signs of virilization resolved and menarche occurred. CONCLUSIONS: Steroid cell tumor should be considered in differential diagnosis of virilization in childhood. Regarding the age of our patient and pathohistological findings of the tumor, her prognosis is favorable.

Alcoholism and depression.

Alcoholism and depression are entangled in many ways and appear in many combinations. In spite of this fact, to this problem is rarely given sufficient attention which results in poor diagnostic and inadequate therapeutic approach with all the consequences this engenders. The frequency of depression in alcoholics is investigated here with the object of finding out to what extent it can be successfully diagnosed and medically treated. The research was carried out in the Psychiatric Clinic of the Clinical Hospital "Split" and the sample of examinees included the patients treated in the stationary part of the Clinic and in the daily hospital.

Xerostomia in patients with triple A syndrome--a newly recognised finding.

Triple A syndrome is characterised by achalasia, alacrima, adrenal insufficiency and progressive neurological abnormalities including impaired autonomic nervous function. We present five patients with triple A syndrome in whom we describe xerostomia for the first time, a symptom which was presumed to be practically exclusive to Sjøgren syndrome and familial dysautonomia. Conclusion We recommend the investigation of salivation in all patients with triple A syndrome and treatment of xerostomia in order to ease swallowing. Further, our results corroborate earlier doubts that some patients with Sjøgren syndrome, especially those with the so-called "achalasia sicca" syndrome and adrenocortical insufficiency, actually had triple A syndrome. Therefore, adrenocortical function should be assessed in all patients with Sjøgren syndrome, particularly in those with difficulties in swallowing, because even latent adrenocortical insufficiency could be life-threatening for these patients in stressful situations.

Syndrome of short stature, mental deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal anomalies.

We report on two brothers with mental deficiency, short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother has celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother has hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. Striking resemblance exists between our patients and those previously reported by Schinzel ¿1980: Helv Paediatr Acta 35:243-251 and van Gelderen ¿1982: Am J Med Genet 13:383-387. The fact that boys are born to young and healthy nonconsanguineous parents and there are no other affected relatives suggests autosomal or X-linked recessive inheritance or parental germinal mosaicism for a dominant mutation.

[Primary adrenocortical micronodular dysplasia]. / Primarna adrenokortikalna mikronodularna displazija.

Two girls (11 and 13 years old) with Cushing's syndrome due to primary adrenocortical micronodular dysplasia (PAMD) are presented. High plasma cortisol concentrations, elevated urinary free cortisol and 17-ketogenic steroids excretion, in addition to low or normal plasma adrenocorticotropic hormone (ACTH) levels pointed towards independent adrenal cortisol hypersecretion. In both girls bilateral adrenalectomy was performed, followed by replacement therapy with glucocorticoids and mineralocorticoids. Pathohistological findings of otherwise enlarged adrenal glands, showed characteristic small nodules measuring 1-2 mm, composed of cells resembling those of zona fasciculata, with abundant, clear cytoplasm. Our younger patient fulfilled the criteria of "Carney complex", because beside PAMD she has had the lentigines.

Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl.

We report on a female newborn, the youngest patient with Zimmermann-Laband syndrome hitherto reported. She had gingival hyperplasia, bulbous soft nose and ears, hypoplastic toenails, and hyperextensibility of the joints, as well as deep palmar and plantar creases, a sign not previously described in literature.