a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads), oligozoospermia (low sperm [en.wikipedia.org]

The physical characteristics include: normal facial features, childlike high pitched voice, proportioned body, and abnormal genitalia. Their mental development is normal to slightly delayed. [howlingpixel.com]

a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty ), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads ), oligozoospermia (low [ipfs.io]

Sparse facial hair and a high-pitched voice are also characteristics in some cases. [doi.org]

Minor symptoms (variably advanced bone age and short adult height), if present, are exclusively because of estrogen excess. Serum estradiol levels are elevated in 48% of affected males, but are not necessarily useful for diagnosis. [archive.org]

bone age suggested a diagnosis of aromatase excess syndrome, which prompted further investigations into mutations of the CYP19 gene. [endocrine-abstracts.org]

Excessive expression of aromatase, an enzyme that plays a crucial role in the estrogen biosynthesis, causes pre- or peripubertal onset gynecomastia, advanced bone age such as early fusion of epiphyses, and short stature in affected males. [genome.jp]

breasts), an enlarged uterus, menstrual irregularities, and, similarly to males, accelerated bone maturation and short final height. [en.wikipedia.org]

Medical treatment of AES is not absolutely necessary, but it is recommended as the condition, if left untreated, can lead to excessively large breasts (which may necessitate surgical reduction), problems with fertility, and possibly an increased risk [dict.eudic.net]

Major clinical signs include weight loss (often accompanied by an increased appetite), anxiety, intolerance to heat, fatigue, hair loss, weakness, hyperactivity, irritability, apathy, depression, polyuria, polydipsia, delirium, and sweating. [howlingpixel.com]

We conclude that the phenotype of familial hyperestrogenism includes prepubertal gynecomastia, hypogonadism, and short stature in men, and precocious thelarche, macromastia, enlarged uterus, and menstrual irregularities in women. [ncbi.nlm.nih.gov]

uterus, menstrual irregularities, and, similarly to males, accelerated bone maturation and short final height. [en.wikipedia.org]

In Females isosexual precocity (precocious puberty with phenotypically-appropriate secondary sexual characteristics) macromastia (excessively large breasts) an enlarged uterus menstrual irregularities, and, similarly to males, accelerated bone maturation [dict.eudic.net]

ORPHA:178345 Synonym(s): AEXS Familial hyperestrogenism Hereditary prepubertal gynecomastia Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent ICD-10: E30.1 OMIM: 139300 UMLS: C1970109 MeSH: - GARD: 12494 MedDRA: - The documents [orpha.net]