Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.
J Clin Endocrinol Metab
; 105(5)2020 05 01.
Article
em En
| MEDLINE
| ID: mdl-32152632
ABSTRACT
CONTEXT We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. OBJECTIVE:
The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment.DESIGN:
We have characterized gonadotropin pulsatility and followed this patient's endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient.SETTING:
Academic medical center. PATIENT OR OTHERPARTICIPANTS:
A 24-year-old adopted white female with CEI. INTERVENTION(S) The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years. MAIN OUTCOME MEASURE(S) Induction of secondary sexual characteristics.RESULTS:
Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment did not induce secondary sexual characteristics in our patient.CONCLUSIONS:
Treatment with DES was not successful in our patient. She remains hypoestrogenic despite the presence of ovarian cysts with a hypoestrogenic vaginal smear, absent breast development, and low bone mineral mass. Findings suggest additional receptor mechanistic actions are required to elicit clinical hormone responses.Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Resistência a Medicamentos
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Receptor alfa de Estrogênio
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Amenorreia
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Animals
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Female
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Humans
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Geórgia