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Asmahane Ladjouze, Sylvie Soskin, Catherine Garel, Marc Jullien, Catherine Naud-Saudreau, Graziella Pinto, Paul Czernichow, and Juliane Léger

Context: GH deficiency (GHD) associated with central precocious puberty (CPP) has been widely reported in cases of arachnoid cyst, septo-optic dysplasia, brain tumors, or after cerebral radiation therapy. However, idiopathic GHD associated with CPP has been reported in only one isolated case.

Objective: To evaluate the occurrence and clinical features of the association of nonacquired GHD and CPP.

Design and setting: This was a retrospective multicenter study.

Patients and methods: The study population was identified through a French nationwide multicenter network (about 3000 patients). We reviewed the medical records of all subjects diagnosed with nonacquired GHD and CPP, with or without developmental abnormalities of the hypothalamic–pituitary axis on cerebral magnetic resonance imaging (MRI), and without any known associated anomaly.

Results: We identified four patients with either isolated GHD (n = 1) or multiple anterior pituitary hormone deficiencies (n = 3). Clinical signs of CPP occurred at 6.4 ± 2.3 years in boys and 7.5 ± 0.5 years in girls, and GnRH analog therapy was started at 4.2 ± 1.6 years after the initiation of recombinant human GH treatment. Cerebral MRI demonstrated ectopic neurohypophysis associated with anterior pituitary hypoplasia in three out of the four patients. The morphology and position of the anterior pituitary and neurohypophysis were normal in one patient who displayed a persistence of the craniopharyngeal canal.

Conclusions: CPP is very rare in patients with nonacquired GHD and is mostly associated with developmental defects in the hypothalamic–pituitary area. Whether molecular mechanisms governing development and activation of the hypothalamic–pituitary axis share dependent factors remains to be explored.

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Yasmine El Allali, Coralie Hermetet, Justine Bacchetta, Cyril Amouroux, Anya Rothenbuhler, Valérie Porquet-Bordes, Marie-Alexandrine Champigny, Sabine Baron, Pascal Barat, Hélène Bony-Trifunovic, Karine Bourdet, Kanetee Busiah, Maryse Cartigny-Maciejewski, Florence Compain, Régis Coutant, Jessica Amsellem-Jager, Marc De Kerdanet, Nathalie Magontier, Brigitte Mignot, Odile Richard, Sylvie Rossignol, Sylvie Soskin, Aurélie Berot, Catherine Naud-Saudreau, Jean-Pierre Salles, Agnès Linglart, Thomas Edouard, and Anne Lienhardt-Roussie

Aim

To describe the presenting features and molecular genetics of primary hyperparathyroidism (PHPT) in the paediatric population.

Methods

Retrospective study of 63 children diagnosed with primary PHPT from 1998 to 2018.

Results

Compared to older children, infants were often asymptomatic (54% vs 15%, P = 0.002) with a milder form of PHPT. When symptomatic, children and adolescents mostly presented with non-specific complaints such as asthenia, depression, weight loss, vomiting or abdominal pain. A genetic cause of PHPT was identified in about half of this cohort (52%). The infancy period was almost exclusively associated with mutation in genes involved in the calcium-sensing receptor (CaSR) signalling pathway (i.e. CaSR and AP2S1 genes, ‘CaSR group’; 94% of infants with mutations) whereas childhood and adolescence were associated with mutation in genes involved in parathyroid cell proliferation (i.e. MEN1, CDC73, CDKN1B and RET genes, ‘cell proliferation group’; 69% of children and adolescents with mutations). Although serum calcium levels did not differ between the two groups (P = 0.785), serum PTH levels and the urinary calcium/creatinine ratio were significantly higher in ‘cell proliferation group’ patients compared to those in the ‘CaSR group’ (P = 0.001 and 0.028, respectively).

Conclusion

Although far less common than in adults, PHPT can develop in children and is associated with significant morbidity. Consequently, this diagnosis should be considered in children with non-specific complaints and lead to monitoring of mineral homeostasis parameters. A genetic cause of PHPT can be identified in about half of these patients.