alexa GH deficiency with central precocious puberty: a new rare disorder associated with a developmental defect of the hypothalamic–pituitary area
Clinical Research

Clinical Research

Journal of Clinical Case Reports

Author(s): Asmahane Ladjouze, Sylvie Soskin, Catherine Garel, Marc Jullien, Catherine NaudSaudreau, Graziella Pinto, Paul Czernichow, Juliane Lger

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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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This article was published in The European Society of Endocrinology and referenced in Journal of Clinical Case Reports

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