Pubertas praecox and hypothalamic hamartoma

Takeuchi, Juji; Handa, Hajime

doi:10.1007/bf01815447

Cited by 22 publications

(2 citation statements)

References 24 publications

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“…resection of the mass is reported as an alternative treatment for TPP (10,13,30,33). Total or partial resection of the mass may result in short term regression of sexual development (10,11,13,30,31,33,35,49,52,53) and possibly some improvement in seizure control (11,34,54). In our series as well as others (1,34,40), partial resection of the mass had no effect on sexual precocity.…”

Section: Discussioncontrasting

confidence: 39%

The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history.

Mahachoklertwattana

Kaplan

Grumbach

1993

The Journal of Clinical Endocrinology & Metabolism

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The LHRH-secreting hypothalamic hamartoma (HH), a congenital malformation consisting of a heterotopic mass of nervous tissue that contains LHRH neurosecretory neurons attached to the tuber cinereum or the floor of the third ventricle, can cause true or central precocious puberty (TPP). We have suggested that it functions as an ectopic LHRH pulse generator independent of the central nervous system inhibitory mechanism that normally restrains the hypothalamic LHRH pulse generator. TPP associated with a hamartoma has all of the hormonal hallmarks of puberty, including a pubertal pattern of pulsatile LH and a pubertal plasma LH response to LHRH administration. Little is known about the natural history of HH. We present long term data on 10 children (5 females and 5 males) with TPP due to HH. Physical signs of puberty were observed at a mean age of 2.2 +/- 1.6 yr (range, 0.5-5.1). Two of 10 had a pedunculated mass, and 8 of 10 had a sessile mass. The hamartoma varied in diameter from 4-25 mm and did not change with time (3.5-8.7 yr). Four patients have a seizure disorder, 3 with gelastic seizures (1 with mental retardation) and 1 with tonic-clonic seizures. The shape of the hamartoma, sessile or pedunculated, did not correlate with the occurrence of seizures. At presentation with sexual precocity, the mean height SD for chronological age was +3.5 +/- 0.4, the mean height SD for bone age was -1.9 +/- 0.4, and the mean bone age SD for chronological age was +6.8 +/- 0.7. Baseline data were comparable to those of 10 females with idiopathic TPP. Nine of 10 HH patients and all idiopathic TPP patients were treated with a LHRH agonist. The response to therapy was excellent in both groups and indistinguishable. Nine of 10 HH children attend school regularly and, aside from those with seizures, have no neurological handicap. While surgical resection of the hamartoma has been recommended, it carries an increased risk of morbidity and mortality and, if removal is incomplete, does not arrest the sexual precocity. In our experience, LHRH agonist therapy for TPP due to HH is the preferable approach.

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Section: Discussioncontrasting

confidence: 39%

The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history.

Mahachoklertwattana

Kaplan

Grumbach

1993

The Journal of Clinical Endocrinology & Metabolism

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“…21,42 Clinically, HH presents with gelastic seizures and a catastrophic drug-resistant epilepsy with or without precocious puberty. 37,25,38 Cognitive and behavioral disturbances including aggressive behavior and "rage attacks" are also observed in patients with HH. 12,42 Treatment of HH is surgical to disconnect or remove the HH from the normal brain.…”

Section: Introductionmentioning

confidence: 99%

Microsurgical Management of Complex Hypothalamic Hamartomas in the Era of Minimally Invasive Therapy: A Case Series and Narrative Review

et al. 2022

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IntroductionRecently, there has been a paradigm shift in the management of hypothalamic hamartoma (HH) from traditional microsurgical techniques to less invasive alternatives such as stereotactic radiosurgery and laser interstitial thermal therapy. However, large and extensive HH may fail to respond to minimally invasive therapies, ultimately necessitating microsurgery. MethodsAll patients who underwent microsurgical resection of a complex HH by the 2 senior authors (D.J.L., H.L.R.) in 2011-2017 were included. Charts were retrospectively reviewed and demographic, clinical, imaging, and outcome data were recorded. Results8 patients, 7 children and 1 adult, with a mean age of 7 years (10 months-27 years), were included. Of those, 2 had failed previous treatments. All 7 children presented with pharmacoresistant gelastic seizures and cognitive dysfunction, 6 exhibited central precocious puberty, and 3 had behavioral problems. Other seizure types affected 6/8 patients. Mean lesion size was 21.6 mm (14-31), all with interpeduncular extension and 5 with intraventricular extension (Delalande type I: 3, type III: 4, type IV: 1). A frontotemporal orbitozygomatic (FTOZ) approach with optic nerve decompression was used in all patients, supplemented by another approach in 3 (endoscopic transventricular: 3, transcallosal: 1). Gross total resection was achieved in 6 patients and subtotal resection in 2. Transient complications occurred in 3 patients (37.5%): self-limited sodium imbalance (n=3), subdural hygroma (n=2). Permanent complications occurred in 2 patients (25%): perforator infarct (n=1), short-term memory loss (n=1). All patients experienced seizure resolution postoperatively with preserved hypothalamic-pituitary axis function. After a mean follow-up of 41 months (2-66), 7 patients remain seizure-free, while 1 has rare recurrent seizures. Cognitive and behavioral symptoms improved signi cantly in all patients. ConclusionFor large HH with interpeduncular extension, microsurgery via the FTOZ approach is a safe and highly effective treatment modality.

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Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

et al. 1994

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Oral-facial-digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy-Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI.

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Pubertas praecox and hypothalamic hamartoma

Cited by 22 publications

References 24 publications

The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history.

The luteinizing hormone-releasing hormone-secreting hypothalamic hamartoma is a congenital malformation: natural history.

Microsurgical Management of Complex Hypothalamic Hamartomas in the Era of Minimally Invasive Therapy: A Case Series and Narrative Review

Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)

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