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Absent scrotum

MedGen UID:
Concept ID:
Congenital Abnormality; Finding
SNOMED CT: Absent scrotum (249233008)
HPO: HP:0008707


Congenital absence of the scrotum. [from HPO]

Conditions with this feature

3 beta-Hydroxysteroid dehydrogenase deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).
Exstrophy-epispadias complex
MedGen UID:
Concept ID:
Disease or Syndrome
Carey et al. (1978) gave the name OEIS complex to a combination of defects comprising omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. This rare complex is thought to represent the most severe end of a spectrum of birth defects, the exstrophy-epispadias sequence, which, in order of increasing severity, includes phallic separation with epispadias, pubic diastasis, exstrophy of the bladder (600057), cloacal exstrophy, and OEIS complex. Very few instances of recurrence of anomalies in this cluster have been reported.
Cerebellar, ocular, craniofacial, and genital syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment. Additional features such as pontine involvement, retinal degeneration, anteverted nares, and low-set ears have been variably observed (Rad et al., 2019).

Professional guidelines


Deeg KH
Ultraschall Med 2021 Feb;42(1):10-38. Epub 2021 Feb 2 doi: 10.1055/a-1325-1834. PMID: 33530122
Sharp VJ, Kieran K, Arlen AM
Am Fam Physician 2013 Dec 15;88(12):835-40. PMID: 24364548
Liang T, Metcalfe P, Sevcik W, Noga M
AJR Am J Roentgenol 2013 May;200(5):W444-9. doi: 10.2214/AJR.12.10036. PMID: 23617512

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