ESPE Abstracts (2022) 95 P2-224

ESPE2022 Poster Category 2 Pituitary, Neuroendocrinology and Puberty (35 abstracts)

Case Report of Familial X-Linked Hypopituitarism, without Confirmed Genetic Mutation

Lilit Dilanyan , Elena Aghajanova & Renata Markosyan

Yerevan State Medical University, Endocrinology Department, Yerevan, Armenia

Introduction: Hypopituitarism is the partial or complete insufficiency of a single or multiple pituitary hormones. The clinical manifestation of hypopituitarism varies depending on the number and severity of hormone deficiencies. Familial cases are rare, compared to the sporadic ones. Its estimated incidence is between 1:4000-1:10000 live births.

Case report: We report the clinical case of familial hypopituitarism in a family where are six children-three male and three female. All three males have Hypopituitarism, and all three females are healthy. The onset of clinical signs of hypopituitarism in all three males started in an early age. The manifestation of Hypopituitarism initiated with Diabetes Insipidus. Afterwards the elder and the middle males were diagnosed with Secondary hypothyroidism, Secondary Adrenal insufficiency, then Growth hormone deficiency at the age of 4-5. The youngest has only Diabetes Insipidus. It’s noteworthy that in all 3 boys MRI showed Hypoplasia of adenohypophysis, agenesis and posterior dislocation of the neurohypophysis. According to the performed studies of genetic examination data none of the studied mutations connected to hypopituitarism such as PROP1, SOX3, POU1F1, HESX1, IGSF1, LHX3, LHX4, PAX6, ARNT2, GH1, GHRH, GHRHR, GHSR, GLI2, SHH have not been found. Patients are receiving hormone replacement therapy (elder male-Hydrocortisone, Desmopressin, Levothyroxine, Testosterone, GH, middle male-Hydrocortisone during stress, infectious diseases, Desmopressin, Levothyroxine, Testosterone, GH, youngest male-Desmopressin). Since the maternal uncle, who refused to be examined, is short in height, infertile and the females are healthy, the growth proceeds normally, the elder ones menstruate, therefore it can be assumed this familial case is X-linked. As it was mentioned above, all three males have different levels of expressed clinical hypopituitarism, mostly expressed in elder male. Its noteworthy to know that the elder male’s biological father differs from the other ones. Therefore it is required to perform a genetic examination of Y-chromosome.

Conclusion: The studies have shown that in the majority of cases of familial hypopituitarism mutation is not identified. The males are required to perform further examinations to identify the genetic cause. We assume in the case of X-linked hypopituitarism the clinical manifestation may be possibly to some extent depend on Y-chromosome. The detection of a genetic mutation will help preventing 3 healthy female mutation carriers from passing the mutation to the next generation.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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