In this study of children undergoing GH testing, hematuria was identified in three subjects. This study demonstrates that side effects to agents used for GH testing are self-limited, yet not rare, and should be discussed with patients and families prior to stimulation testing.
Introduction The Histrelin acetate implant (50 mg) has been used widely in the treatment of central precocious puberty (CPP). The implant is inserted subcutaneously and provides continuous release of gonadotropin releasing hormone analog (GnRHa) Histrelin. It provides pubertal hormonal suppression for 1 year and needs to be replaced yearly. We present an interesting case of a forgotten Histrelin implant which was not removed for 5 years. Clinical Case 7 years and 0-month-old, healthy female presented to Endocrine clinic with breast and pubic hair development. On physical exam, she was noted to have Tanner III breasts and Tanner II pubic hair. Initial labs revealed LH - <0.1 mIU/mL [<0.2], FSH - 1.6 mIU/mL and Estradiol <20 [<20]. Thyroid function test and electrolytes were normal. Bone age done by primary care provider at 6 years and 6 months revealed a bone age of 8 years and 10 months. Ultrasound of pelvis revealed bilaterally enlarged ovaries due to multiple follicles and adrenals were normal. Leuprolide stimulation test revealed peak LH at 4.6 mIU/mL, FSH at 18.3 mIU/mL and Estradiol - 169 pg/mL which were consistent with CPP. Brain MRI was within normal limits. Her repeat bone age at chronological age 7 years and 6 months was advanced at 11 years. She was started on Leuprolide depot injections and later had a Histrelin acetate implant inserted in the left arm. Labs done 3 months after the implant showed hormonal suppression. She was lost to follow up about 9 months after implant insertion. She presented again to clinic 4 years and 11 months after implant was inserted for removal. Her breast development showed little progression at Tanner III breasts and Tanner IV pubic hair and she did not develop menarche yet. Her recent labs were LH 0.33 mIU/mL, FSH 1.97 mIU/mL, and Estradiol 20 pg/mL. Her bone age at chronological age of 12 years and 9 months was 13 years and 0 months. Ultrasound of left upper extremity revealed cylindrical foreign body, in the left medial upper arm superficial soft tissues. Implant removal was performed by surgical team and the implant came out in several pieces but there were no palpable remains. Discussion This patient showed very little pubertal and bone age progression over the 5-year period when she had the implant. Patients should be warned about the risks of keeping the implant longer than longer than recommended including continued suppression of the pituitary-gonadal axis and difficulty in removal of the implant. The 50 mg Histrelin implant is released at 65 mcg per day which cumulatively adds up to 23.7 mg a year. In theory, the implant would be able to release GnRHa for more than 2 years. A prospective study had shown that a single Histrelin implant is effective for 2 years in the treatment of CPP with adequate hormonal suppression. Conclusion Further studies are needed to evaluate use of the histrelin implant for more than a year which would reduce cost and decrease the...
Activating germline mutations of the TSH receptor are responsible for a rare form of non-autoimmune hyperthyroidism transmitted as an autosomal dominant trait. We describe the case of a patient and her mother presenting with neonatal non-autoimmune hyperthyroidism associated with a heterozygous A619G mutation previously described in one patient who presented in adolescence. Our patient is a 6 year old African-American female diagnosed with hyperthyroidism at 2 weeks of age. Thyroid tests were being followed in the NICU due to maternal history of hyperthyroidism. The mother had a history of hyperthyroidism and had thyroidectomy at age 4 years. The patient was thought to have neonatal Graves disease due to maternal history of hyperthyroidism. She was initially started on Propranolol at an outside hospital. She presented to the Children’s Hospital of Michigan Emergency Department at 7 weeks of age with tachycardia and constant crying. Her thyroid tests at that time revealed elevated free thyroxine and free T3 levels at 2.7 ng/mL (0.8-1.8) and 8.8 pg/mL (1.4- 4.4) respectively. TSH level was less than 0.008 µIU/mL (0.800-4.400). She had diffuse goiter. She was started on Methimazole and the dose was adjusted to keep her FT4 and T3 within normal range; TSH remained suppressed despite normalizing FT4 and T3 levels. Thyroid antibodies were repeatedly negative including Thyroid peroxidase, thyroid microsomal, thyroglobulin antibodies, thyrotropin receptor antibodies (TRab) and thyroid stimulating immunoglobulins (TSI). The patient also had bilateral exotropia and required strabismus surgery at 13 and at 17 months of age. She also has global developmental delay requiring physical, occupational, and speech therapy. Chromosomal microarray and fragile X DNA testing were normal. She is currently growing at 1.7 SDS for height and 0.8 SDS for weight and is on Methimazole 7.5 mg orally daily. TSHR sequencing and deletion/duplication analysis revealed that she is heterozygous for a missense variant: c.1856A>G; p.Asp619Gly. We report a case of a patient and her mother with non-autoimmune hyperthyroidism with a heterozygous c.1856A>G (p.Asp619Gly) missense variant in the TSHR gene. This variant has been previously identified in one individual in the compound heterozygous state and was considered to be the primary contributing mutation. Functional studies suggest that the variant leads to constitutive activity of the TSH receptor, supporting the pathogenicity of the variant. In our patient, the mutation was found to be inherited from the mother who also has a history of goiter and hyperthyroidism and unlike the previously reported case, our patient presented in the neonatal period. We describe the clinical course and associated findings in this family and discuss the evaluation and management of this interesting condition.
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