ESPE2022 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (77 abstracts)
Genetic causes of combined pituitary hormone deficiency
Arzu Jalilova 1 , Aslı Ece Solmaz 2 , Aysun Ata 1 , Tahir Atik 3 , Cenk Eraslan 4 , Samim Özen 1 , Damla Gökşen 1 & Şükran Darcan 1
1Ege University Faculty of Medicine, Department of Pediatric Endocrine and DiabetesFaculty of Medicine, Izmir, Turkey; 2Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey; 3Ege University Faculty of Medicine, Department of Pediatrics, Division of Genetics, Izmir, Turkey; 4Ege University Faculty of Medicine Department of Brain and Nerve Surgery, IzmirTur, Turkey
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
| Clinical feature | Results | |
| General data | Gender: M/F Age at diagnosis(median) |
70/30% 3.10 (min-max: 0.04 -15.2) |
| Birth data | At term/preterm birth Micropenis Cryptorchidism Prolonged neonatal jaundice |
78/22% 53% 32% 26% |
| Hormon deficiencies GH TSH ADH ACTH |
At diagnosis 70% 15% 4% 11% |
|
| 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 |
81.5% 48% 19% 3.5 11% |
| Patient | PROP1 | POU1F1 | LHX4 | HESX1 | FOXA2 | GLI2 | OTX2 |
| Number of patients | 1 | 3 | 1 | 1 | 1 | 1 | 1 |
| Gender | M | M/M/F | M | F | M | M | F |
| 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 -0.36 SDS -0.4 SDS |
-0.12 SDS | -2 SDS | -2 SDS | -2.7 SDS | 2.5 SDS |
| Height SDS at diagnosis | -4.04 SDS | -2.86 -0.45 -2 |
-0.27 | -2.2 | -2.2 | -1.6 | -2.6 |
| Hormone deficiencies/ at diagnosis |
GH | TSH GH TSH |
TSH | ACTH | ACTH | ACTH | GH |
| Pituitary and cerebral imaging | Normal | Normal APH + EPP Normal |
EPP | Normal | APH+EPP+Stal hypoplasia | Normal | Normal |
Conclusions: Phenotype-genotype relationship is essential for follow-up and treatment options of CPHD.
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Abstracts
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more