Hereditary gingival fibromatosis and growth retardation.

OBJECTIVE: To describe two patients with hereditary gingival fibromatosis (HGF) and growth hormone deficiency and to review the literature on HGF and related endocrine abnormalities. METHODS: We present case reports of two patients (first cousins)-an 8-year-old girl and a 13-year-old boy-with an existing diagnosis of HGF, who were assessed because of presumed growth failure. Both patients underwent growth hormone stimulation testing and more in-depth endocrine evaluation, including measurement of morning cortisol, adrenocorticotropic hormone (ACTH), and prolactin levels as well as thyroid function tests. An ACTH stimulation test was also performed. Radiologic evaluation included assessment of bone age and magnetic resonance imaging of the brain. RESULTS: In addition to HGF, both patients had short stature, subnormal growth velocity, and delayed bone age but no abnormalities on magnetic resonance imaging of the brain. Serum prolactin levels and results of thyroid function tests were normal. Subnormal growth hormone response was noted during hypoglycemia and pharmacologic stimuli with clonidine and levodopa. The female patient, who also had recurrent hypoglycemic episodes, had a suboptimal cortisol and ACTH response during hypoglycemia. On the ACTH stimulation test, she showed an inadequate cortisol response at 30 minutes but a normal response at 60 minutes. The male patient had normal morning cortisol and ACTH levels plus a normal response to ACTH stimulation. Both patients are responding well to treatment with growth hormone. The girl is also receiving cortisol replacement and has had no further episodes of hypoglycemia. CONCLUSION: Although HGF has been described as an isolated finding, it can occur as part of a syndrome, including infrequent endocrine abnormalities such as growth hormone insufficiency. The cause of the growth hormone deficiency remains unclear in these two patients. We believe that patients with HGF should be monitored carefully for a prolonged period for growth as well as other endocrine abnormalities.

Castleman's disease: atypical manifestation in an 11-year-old girl.

Castleman's disease (angiofollicular lymphoid hyperplasia) is a rare lymphoproliferative disorder that can be found in both nodal and extranodal sites. It is classified histologically as the more common hyaline vascular variant, a plasma cell variant, or a mixed form. The hyaline vascular variant is typically characterized by a benign clinical course with no constitutional symptoms other than localized pressure from the mass. We report an atypical case of the hyaline vascular variant with constitutional symptoms that have been clinically associated with the aggressive plasma cell variant. Diagnosis was confirmed histopathologically after surgical resection, which was curative and resulted in resolution of all symptoms. This case broadens our understanding of Castleman's disease as a part of the spectrum of lymphoproliferative and inflammatory diseases. Furthermore, it supports recent studies suggesting that systemic pathogenicity is related to associated cytokine dysregulation and highlights the need to include Castleman's disease in the differential diagnosis of pediatric lymphoproliferative disorders.

Pitfalls of conventional human chorionic gonadotropin stimulation test to detect hormonally functional cryptorchid testes in midchildhood.

OBJECTIVE: To report two cases misdiagnosed as bilateral anorchism in midchildhood on the basis of multiple conventional human chorionic gonadotropin (HCG) stimulation tests and sonograms of the abdomen and pelvis. METHODS: In two young male patients with cryptorchidism who were considered to have anorchism, we describe the findings on clinical examination, the testosterone levels before and after standard HCG stimulation testing, and sonographic findings during the midchildhood period. In both cases, as the children approached puberty the diagnosis was found to be incorrect. RESULTS: Two boys, 8 and 91/2 years old, were seen in consultation in our Pediatric Endocrine Clinic with a presumed diagnosis of anorchism. In the first case, multiple conventional HCG stimulation tests were done. In the second case, a single stimulation test was performed during routine follow-up assessments. In both cases, testosterone levels before and after HCG stimulation were consistent with the diagnosis of absent functional testicular tissue. Sonograms of the abdomen and pelvis also failed to detect the testicles. Both patients were ultimately noted to be pubertal (at 14 1/2 and >13 1/2 years, respectively) and to have early pubertal testosterone levels. A testicle was detected in one patient by abdominal computed tomographic scan and in the other by palpation of the inguinal canal. CONCLUSION: Conventional dosing and duration of the HCG stimulation test, as widely recommended in standard textbooks and in articles in the medical literature, may not elicit positive HCG-induced testosterone responses during midchildhood for detection of functional testicular tissue. During the midchildhood period, which is characterized by low gonadotropin, low sex steroid production, and a highly sensitive hypothalamic-pituitary-gonadal axis to feedback inhibition, a prolonged HCG stimulation test-perhaps of 4 to 6 weeks' duration-may be necessary. In addition, other investigational modalities may need to be used to detect the presence of functional testicular tissue during this developmental period.

Midline posterior cervical cystic hygroma.

Cystic hygromas are among the most common congenital neck masses. They have a predilection for the left posterior triangle and manifest early in life. Although various locations of cystic hygromas are found in the literature, we believe our case of a 9-month-old girl represents the first reported occurrence of a posterior cervical midline cystic hygroma.