| HPO |
HP:0000133 |
Gonadal dysgenesis |
— |
— |
HP:0000812 |
| HPO |
HP:0012244 |
Abnormal sex determination |
"Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] |
— |
HP:0012243 |
| HPO |
HP:0008232 |
Elevated circulating follicle stimulating hormone level |
"An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson] |
— |
HP:0000837, HP:0030346 |
| HPO |
HP:0000045 |
Abnormality of the scrotum |
— |
— |
HP:0000032 |
| HPO |
HP:0000100 |
Nephrotic syndrome |
"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] |
In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h and hypalbuminemia < 2.5 mg/dl. |
HP:0012211 |
| HPO |
HP:0040171 |
Decreased serum testosterone concentration |
— |
— |
HP:0030087, HP:0030349 |
| HPO |
HP:0000815 |
Hypergonadotropic hypogonadism |
"Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] |
— |
HP:0000135 |
| HPO |
HP:0008665 |
Clitoral hypertrophy |
"Hypertrophy of the clitoris." [HPO:probinson] |
Increased size of the clitoris. |
HP:0040253 |
| HPO |
HP:0000028 |
Cryptorchidism |
"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum." [HPO:probinson, PMID:23650202] |
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. |
HP:0000035 |
| HPO |
HP:0000062 |
Ambiguous genitalia |
"A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, PMID:15102623] |
Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. |
HP:0000811 |
| HPO |
HP:0008730 |
Female external genitalia in individual with 46,XY karyotype |
"The presence of female external genitalia in a person with a male karyotype." [HPO:probinson] |
— |
HP:0000032 |
| HPO |
HP:0030680 |
Abnormality of cardiovascular system morphology |
"Any structural anomaly of the heart and great vessels." [] |
— |
HP:0001626 |
| HPO |
HP:0002750 |
Delayed skeletal maturation |
"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] |
— |
HP:0000927 |
| HPO |
HP:0000054 |
Micropenis |
"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, PMID:15102623] |
— |
HP:0008736 |
| HPO |
HP:0008214 |
Decreased serum estradiol |
"A reduction below normal concentration of estradiol in the circulation." [] |
— |
HP:0025133 |
| HPO |
HP:0008734 |
Decreased testicular size |
"Reduced volume of the testicle (the male gonad)." [HPO:probinson] |
— |
HP:0000050, HP:0010468 |
| HPO |
HP:0000939 |
Osteoporosis |
"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD)." [HPO:probinson, PMID:28293453] |
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. |
HP:0004349 |
| HPO |
HP:0008193 |
Primary gonadal insufficiency |
— |
— |
HP:0008373 |
| HPO |
HP:0000868 |
Decreased fertility in females |
— |
— |
HP:0000144 |
| HPO |
HP:0000030 |
Testicular gonadoblastoma |
"The presence of a gonadoblastoma of the testis." [HPO:probinson] |
— |
HP:0000150, HP:0010788 |
| HPO |
HP:0008187 |
Absence of secondary sex characteristics |
"No secondary sexual characteristics are present at puberty." [HPO:probinson] |
— |
HP:0008373 |
| HPO |
HP:0000823 |
Delayed puberty |
"Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] |
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. |
HP:0001510, HP:0008373 |
| HPO |
HP:0002667 |
Nephroblastoma |
"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson] |
Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. |
HP:0011794 |
| HPO |
HP:0000058 |
Abnormal labia morphology |
"An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson] |
— |
HP:0000055 |
| HPO |
HP:0010464 |
Streak ovary |
"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [HPO:probinson] |
— |
HP:0008724 |