Long-Acting Gonadotropin-Releasing Hormone Analogue Treatment for Central Precocious Puberty in Maternal Uniparental Disomy Chromosome 14

Takahashi, Ikuko; Takahashi, Tsutomu; Utsunomiya, Maki; Takada, Goro

doi:10.1620/tjem.207.333

Cited by 14 publications

(8 citation statements)

References 10 publications

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“…52 In contrast, deletions that spare MKRN3 and MAGEL2 but remove nearby paternally Unlike the ambiguous picture in PWS, individuals with TS14 clearly exhibit central precocious puberty with accelerated bone age, increased height velocity, early breast development, early menarche, and pubertal levels of reproductive hormones. 58,59 In cases of TS14 associated with microdeletions, DLK1 is the only gene in the minimal region of overlap, strongly suggesting that absence of expression of DLK1 is responsible for precocious puberty. 59 In a recent report, deletion of DLK1 was…”

Section: M P R I Nti N G Ef F Ect S On P U Ber Ta L T Im In Gmentioning

confidence: 99%

The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake

Kotler¹,

Haig

2018

Evolutionary Anthropology

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Relative to the life history of other great apes, that of humans is characterized by early weaning and short interbirth intervals (IBIs). We propose that in modern humans, birth until adrenarche, or the rise in adrenal androgens, developmentally corresponds to the period from birth until weaning in great apes and ancestral hominins. According to this hypothesis, humans achieved short IBIs by subdividing ancestral infancy into a nurseling phase, during which offspring fed at the breast, and a weanling phase, during which offspring fed specially prepared foods. Imprinted genes influence the timing of human weaning and adrenarche, with paternally expressed genes promoting delays in childhood maturation and maternally expressed genes promoting accelerated maturation. These observations suggest that the tempo of human development has been shaped by consequences for the fitness of kin, with faster development increasing maternal fitness at a cost to child fitness. The effects of imprinted genes suggest that the duration of the juvenile period (adrenarche until puberty) has also been shaped by evolutionary conflicts within the family.

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Section: M P R I Nti N G Ef F Ect S On P U Ber Ta L T Im In Gmentioning

confidence: 99%

The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake

Kotler¹,

Haig

2018

Evolutionary Anthropology

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“…A lutenising hormone releasing hormone (LHRH) agonist was given to one patient,6 and Leuprolide, a long-acting gonadotropin releasing hormone (GnRH) analogue, was given to one patient to delay puberty 35. One patient required oral diabetes treatment to control hyperglycaemia,31 and one patient required adrenocorticotrophic hormone (ACTH) and clobazam to treat epilepsy 42.…”

Section: Treatmentmentioning

confidence: 99%

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

et al. 2014

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Chromosome 14 harbours an imprinted locus at 14q32. Maternal uniparental disomy of chromosome 14, paternal deletions and loss of methylation at the intergenic differentially methylated region (IG-DMR) result in a human phenotype of low birth weight, hypotonia, early puberty and markedly short adult stature. The analysis of the world literature of 51 cases identifies the key features that will enhance diagnosis and potentially improve treatment. We found a median birth weight SD score (SDS) of -1.88 and median adult final height of -2.04 SDS. Hypotonia and motor delay were reported in 93% and 83% of cases, respectively. Early puberty was reported in 86% of cases with the mean age of menarche at 10 years and 2 months of age. Small hands and feet were reported frequently (87% and 96%, respectively). Premature birth was common (30%) and feeding difficulties frequently reported (n = 22). There was evidence of mildly reduced intellectual ability (measured IQ 75-95). Obesity was reported in 49% of cases, and three patients developed type 2 diabetes mellitus. Two patients were reported to have recurrent hypoglycaemia, and one of these patients was subsequently demonstrated to be growth hormone deficient and started replacement therapy. We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required.

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“…As a result, some of these patients are treated with long-acting gonadotropin-releasing hormone (GnRH) analogue to delay puberty [4, 8, 13, 16]. In order to increase stature, growth hormone treatment must occur before puberty triggers bone age acceleration and epiphyseal closure [17].…”

Section: Introductionmentioning

confidence: 99%

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman

Lokulo-Sodipe

Searle³

et al. 2018

Horm Res Paediatr

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Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome. Methods: This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone. Results: After 1 year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/year. Conclusions: These results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature.

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Long-Acting Gonadotropin-Releasing Hormone Analogue Treatment for Central Precocious Puberty in Maternal Uniparental Disomy Chromosome 14

Cited by 14 publications

References 10 publications

The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake

The tempo of human childhood: a maternal foot on the accelerator, a paternal foot on the brake

Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

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