- Atypical presentation of Leydig cell tumour in three prepubertal patients: diagnosis, treatment and outcomes. [Journal Article]
- JPJ Pediatr Endocrinol Metab 2019 Apr 24; 32(4):369-374
- 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 typica…
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.
- Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery. [Case Reports]
- BCBMJ Case Rep 2019 Mar 12; 12(3)
- Typical characteristics of children with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency: a single-centre experience and review of the literature. [Journal Article]
- JPJ Pediatr Endocrinol Metab 2019 Mar 26; 32(3):259-267
- 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 cont…
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.
- A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report. [Case Reports]
- BEBMC Endocr Disord 2018 Apr 27; 18(1):23
- CONCLUSIONS: Our results suggest that chimera screening and CYP11B1 mutation screening should be simultaneously conducted, and pedigree study is necessary.
- Rare virilizing granulosa cell tumor in an adolescent. [Journal Article]
- MCMol Clin Oncol 2017; 6(1):88-90
- Hormone-producing malignancies are rare in children or adolescent patients: Only 0.1% of all ovarian tumors and 4-5% of granulosa cell tumors occur in the sexually non-active ages. Granulosa cell tum…
Hormone-producing malignancies are rare in children or adolescent patients: Only 0.1% of all ovarian tumors and 4-5% of granulosa cell tumors occur in the sexually non-active ages. Granulosa cell tumors (GCTs) are sex cord-stromal tumors of the ovary, representing 7-8% of all ovarian neoplasms. A total of 95% of all GCTs are adult-type, and only 5% are diagnosed as juvenile-type GCT. A majority of children with juvenile-type GCT present with isosexual precocious pseudopuberty due to excessive estrogen production, although virilizing, testosterone-producing, juvenile-type GCTs are rare, occurring only in 2-3% of cases. The present case study reports on a case of a virilizing, juvenile-type GCT in a 14-year-old girl, along with a review of the literature.
- Atypical Leydig Cell Tumor in Children: Report of 2 Cases. [Case Reports]
- PedPediatrics 2016; 138(5)
- Leydig cell tumors (LCTs) are rare cord-stromal tumors that may occur in testis or ovaries and may produce androgens or estrogens. The majority has been found in men between the ages of 20 and 60 yea…
Leydig cell tumors (LCTs) are rare cord-stromal tumors that may occur in testis or ovaries and may produce androgens or estrogens. The majority has been found in men between the ages of 20 and 60 years. Adults with androgen-secreting LCTs are usually asymptomatic; feminizing syndromes may result from the production of estradiol or the peripheral aromatization of testosterone. In children, LCTs usually present between 5 and 10 years of age with isosexual precocious pseudopuberty or gynecomastia. We report 2 cases of LCT in prepubertal boys presenting with advanced unilateral pubarche and testicular volume asymmetry. Both subjects had normal penis size for age; no axillary hair or other signs of puberty were present. Height velocity was normal, and bone age was coincident with chronological age. Androgen levels were normal, as well as estrogen, corticotropin, and cortisol concentration. Testicular ultrasound demonstrated a testicular mass. Histology examination revealed a well-differentiated LCT. This is the first report of 2 pediatric patients with LCT presenting with advanced pubarche in absence of systemic hyperandrogenism. We hypothesize that the neoplastic cells may locally produce high levels of androgens or androgen-like bioactivity molecules that are responsible for the clinical manifestation. We suggest that a testicular ultrasound should be obtained in all children presenting with unilateral pubarche, with or without hyperandrogenism.
- A case of gradually manifesting McCune-Albright syndrome with a 10-year follow-up. [Journal Article]
- RMReprod Med Biol 2016; 15(4):261-265
- McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD) of bone, café-au-lait skin pigmentation, and precocious puberty. Here we report a case of a 12-year-old girl with MAS present…
McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD) of bone, café-au-lait skin pigmentation, and precocious puberty. Here we report a case of a 12-year-old girl with MAS presenting sexual precocity as initial signs, followed by FD of bone with her growth. She was referred to our hospital because of breast budding and abnormal genital bleeding at the age of 2.8 years. On physical examination, her height and weight were greater than two standard deviations of the mean ranges. Hormonal analysis revealed an elevated serum estradiol and suppressed luteinizing hormone and follicle-stimulating hormone production. Her bone age had advanced, and a 16-mm monocystic lesion was observed on her right ovary by pelvic ultrasonography. Considering the clinical and paraclinical findings, precocious pseudopuberty was suspected and periodic observations were started. Her estrogen "flare up" was transient and she had repeated similar episodes three times in the following 7 years. She complained of pain in her right hip at the age of 9.6 years, which was diagnosed as FD of bone by fluorodeoxyglucose-positron emission tomography. Although no café-au-lait skin pigmentation was observed, we made a preliminary diagnosis of MAS. Because clinical evidence for MAS can appear later in the course of recurrent autonomous cysts, careful observation and periodical assessments of patients with suspected MAS is necessary.
- Efficacy of ultrasound-guided testicle-sparing surgery for small testicular masses. [Journal Article]
- JUJ Ultrasound 2016; 19(1):29-33
- CONCLUSIONS: The OS, the low rate of local recurrence, and absence of complications, tend to demonstrate the safety of the procedure. The benefits to testicular-sparing surgery include improving the patient's overall quality of life, fertility, endocrine function and negative cosmetic effects of radical orchiectomy.
- True Precocious Puberty Following Treatment of a Leydig Cell Tumor: Two Case Reports and Literature Review. [Case Reports]
- FPFront Pediatr 2015; 3:93
- Leydig cell testicular tumors are a rare cause of precocious pseudopuberty in boys. Surgery is the main therapy and shows good overall prognosis. The physical signs of precocious puberty are expected…
Leydig cell testicular tumors are a rare cause of precocious pseudopuberty in boys. Surgery is the main therapy and shows good overall prognosis. The physical signs of precocious puberty are expected to disappear shortly after surgical removal of the mass. We report two children, 7.5 and 7.7 year-old boys, who underwent testis-sparing surgery for a Leydig cell testicular tumor causing precocious pseudopuberty. During follow-up, after an immediate clinical and laboratory regression, both boys presented signs of precocious puberty and ultimately developed central precocious puberty. They were successfully treated with gonadotropin-releasing hormone (GnRH) analogs. Only six other cases have been described regarding the development of central precocious puberty after successful treatment of a Leydig cell tumor causing precocious pseudopuberty. Gonadotropin-dependent precocious puberty should be considered in children treated for a Leydig cell tumor presenting persistent or recurrent physical signs of puberty activation. In such cases, therapy with GnRH analogs appears to be the most effective medical treatment.
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- Autonomous Ovarian Cysts in Prepubertal Girls. How Aggressive Should We Be? A Review of the Literature. [Review]
- JPJ Pediatr Adolesc Gynecol 2015; 28(5):292-6
- CONCLUSIONS: We conclude that although a conservative approach should always be proposed in the first instance, one should be aware of the risk of recurrence and progression to CPP or MCA. Antiestrogen treatment appears promising; however data comparing it with surgical options and particularly long term consequences with regards to future reproductive outcomes are not available.