ESPE2022 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (77 abstracts)
Introduction: CPHD is characterized by impaired production of GH and one or more other pituitary hormones. Genetic defects causing CPHD typically result in insufficient anterior pituitary gland development.
Aim: The aim of the study is to determine the genetic etiologies that lead tocombined hormone deficiencies. Todetermine phenotype genotype relationship with or without extra-pituitary anomalies.
Material and methods: 27 CPHD cases between 2000 and 2022 were included inthe study. Genetic analyzes were performed with clinical exom sequencing panel based next-generation sequencing.
Results: The history, physical examination and radiological findings of 27 cases are listed in Table 1. Mutation frequency was 33,3 %. POU1F1 gene mutation was found in 3 patients (33%). PROP1, LHX4, HESX1, OTX2, FOXA2 and GLI2 mutations were detected in one patient each. Dysmorphic features as unilateral preaxial polydactyly, coloboma in the eye, strabismus and epicanthus were detected in the case with OTX 2 variant, coarse facial appearance, hypertelorism, right kidney agenesis in FOXA2 variant; cleft palate, micrognathia in GLI2 variant; microcephaly, flattened nasal root in HESX1, frontal bossing, low-set rotated ears, frontal bossing in LHX4 variant. Clinical and molecular features of the genes are summarized in Table 2
|General data||Gender: M/F
Age at diagnosis(median)
3.10 (min-max: 0.04 -15.2)
|Birth data||At term/preterm birth
Prolonged neonatal jaundice
|Auxological data||Height SDS at diagnosis||-2.3 ± 1.4|
|MRI imaging data||Hypothalamic–pituitary abnormalities
• Anterior pituitary hypoplasia or aplasia
• APH+ EPP
• Pituitary stalk abnormalities
• Neuropituitary ectopia
|Number of patients||1||3||1||1||1||1||1|
|Week of gestation at birth||38 w||32w/34 w/38w||39w||37w||38w||38w||38w|
|Weigh SDS at diagnosis||-1.67 SDS||-0.89 SDS
|-0.12 SDS||-2 SDS||-2 SDS||-2.7 SDS||2.5 SDS|
|Height SDS at diagnosis||-4.04 SDS||-2.86
|Pituitary and cerebral imaging||Normal||Normal
APH + EPP Normal
Conclusions: Phenotype-genotype relationship is essential for follow-up and treatment options of CPHD.
15 Sep 2022 - 17 Sep 2022