Tumor de células de la granulosa juvenil de ovario. Presentación inusual. Reporte de un caso

Granulose cell tumors represent 2% of ovarian tumors. They are classified as adult type and juvenile type. The juvenile type is associated with precocious pseudopuberty, irregular menstruation or nonspecific symptoms such as abdominal pain and palpable mass. More than 95% are confined to the ovary. A case of a 31-year-old patient is described. The patient consulted for 6-month evolution of increased abdominal volume and weight loss. Right ovary tumor was diagnosed. Tumor excision by gynecological laparotomy with positive frozen cut biopsy and surgical staging were performed. Pathological anatomy reported stromal tumor, and sexual cords suggestive of malignant juvenile granulose cell tumor. Immunohistochemistry reported positive inhibin B. It was concluded as stage IIIA2. This is a rare neoplasm with variable behavior. Accurate diagnosis is based on histological and immunohistochemical studies. Key words: Granulosa, Cell tumor, Juvenile granulosa cell tumor, Ascites, Diagnosis.

Precocious pseudopuberty, a paraneoplastic manifestation: a report of 2 cases

Peripheral precocious puberty (PPP) may be a paraneoplastic manifestation, associated with beta human chorionic gonadotropin (β-hCG)–secreting tumors. We describe 2 young children with β-hCG-secreting tumors presenting with signs of pubertal activation. In the first patient, a 16-month-old boy with hepatoblastoma, only initial signs of PPP at presentation were identifiable, with concomitant high levels of β-hCG. Although the tumor had good response to therapy, β-hCG levels were fluctuant until the tumor was resected surgically. The second patient, an 18-month-old boy with intracranial germ cell tumor, presented with clear signs of pubertal activation and genitalia enlargement with no initial alteration of sex hormones. In both cases, the oncologic response to therapy was good. In the first case, full remission of the pubertal signs was observed; in the second, pubertal signs were still visible 20 months after the end of treatment.

Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes

Background Testicular tumours are uncommon in children, accounting for only 1% of all childhood tumours. Prepubertal Leydig cell tumours actively secrete testosterone and as a result, patients typically present with isosexual precocious pseudopuberty, this being the first cause of consultation. We present three cases of Leydig cell tumours in prepubertal patients with an atypical presentation. Methods We studied three cases of Leydig cell tumours in prepubertal boys, who either consulted for testicular asymmetry or were incidentally found to have the tumour in the absence of systemic signs of systemic hyperandrogenism or precocious puberty. In all cases, a well-circumscribed testicular mass was found by testicular ultrasound. The diagnosis was confirmed by histology. In all three cases, testicular enucleation was performed with satisfactory follow-up. Results Following the surgical procedure, during the follow-up, all patients showed a normal testicular volume in comparison with the contralateral testis. No complications were seen during follow-up. Conclusions A testicular ultrasound in children developing asymptomatic testicular asymmetry might be recommended due to its possible hormonal action locally. An early testicular ultrasound, testicular swelling discrepancies, tumour size and androgen production are key factors in the prognosis and management of this type of tumour.

Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature

Background 11β-hydroxylase deficiency (11βOHD) is a rare disease representing the second most common cause of congenital adrenal hyperplasia (CAH) (5–8%) with an incidence of about 1:100,000. In contrast to 21-hydroxylase deficiency (21OHD), 11βOHD is not included in neonatal screening programmes. The objective of this study was to demonstrate the typical features of male patients with 11βOHD. Methods Clinical, biochemical and radiological data of patients with 11βOHD were analysed in this retrospective single-centre analysis. Results Six male patients of four unrelated families with 11βOHD were identified (0.1–13.5 years of chronological age [CA] at diagnosis). The predominant symptoms were arterial hypertension, tall stature and precocious pseudopuberty. Bone ages (BAs) were remarkably advanced at diagnosis in four index patients (median difference BA–CA: 5.5 years, range 1.5–9.2 years). Homozygous mutations were identified in exon 7 (c.1179_1180dupGA [p.Asn394Argfs*37]) and exon 8 (c.1398+2T>C) of the CYP11B1 gene leading both to a complete loss of function. The latter mutation has not yet been described in databases. 11βOHD was identified by the measurement of 11-deoxycortisol in a newborn screening card of one patient retrospectively. Testicular adrenal rest tumours (TARTs) were detected in three patients at 3.7 years, 11 years and 14.4 years. Conclusion The diagnosis of CAH due to 11βOHD is delayed and should be suspected in children with arterial hypertension, tall stature and precocious pseudopuberty. Patients may develop TARTs as early as infancy. 11βOHD should be included in newborn screening programmes, at least in newborns of index families, to allow early diagnosis and the start of treatment to reduce morbidity.

Van Wyk- Grumbach Syndrome – An Unusual Presentation of Severe Hypothyroidism

Van Wyk- Grumbach syndrome (VWGS) is characterized by juvenile hypothyroidism, delayed bone age, and precocious puberty with a complete reversal to the pre-pubertal state following thyroid hormone replacement therapy. In this study, a 7 years and 1 month old girl presented with precocity having premature menarche, short stature, constipation, delayed bone age and enlarged bilateral multicystic ovaries. She presented with acute abdomen due to torsion of left ovary and had to undergo left sided oophorectomy and right ovarian cystectomy. High serum TSH, low FT4 with high FSH but low LH within pre-pubertal range suggestive of ‘severe hypothyroidism with FSH dominant precocious pseudopuberty’ confirmed the diagnosis of VWGS.Journal of Armed Forces Medical College Bangladesh Vol.11(1) 2015: 85-88