Complete gonadal dysgenisis does not mean that a baby is born with fully formed ovaries and fully formed testes. What it means is that instead of gonads (i.e. either ovaries or testes) the baby has fibrous, non-functional tissue that cannot produce the hormones that ovaries or testes produce and the child will not develop normally at puberty without receiving hormone replacement.
Not always. Ok, so I know “true hermaphroditism” is an outdated term now, but the science papers did/do still use them and when I quoted them, that’s the term they used, so I have merely repeated it so as to accurately post what I’m reading. But these intersex people can in fact have both functioning ovarian and testes tissues, which occurs in 30% of patients. They are not always infertile. See: www.lecturio.com/concepts/true-hermaphroditism/
There are cases of them even having a spontaneous pregnancy. Cases of ones with the exact same chromosomes being raised as male or female. Here are summaries and study ID to look up on pubmed:
Pregnancy in true hermaphrodites and all male offspring to date
Abstract:A true hermaphrodite with a spontaneous pregnancy prenatally known to have a remaining portion of a right ovotestis, delivered a male neonate. DOI: 10.1097/AOG.0b013e3181866456
Potential autofertility in true hermaphrodites
Abstract: ...In fact, both ovulation and spermatogenesis were detected in some cases. All of these findings show that true hermaphrodites with ovarian and testicular tissues are potentially autofertile.
DOI: 10.1080/14767058.2017.1291619
46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report
Abstract: Rationale: Ovotesticular disorder of sex development (DSD), previously known as true hermaphroditism, is a disorder in which individuals have both testicular and ovarian tissues. Instances of tumors arising in the gonads of individuals with 46,XX ovotesticular DSD are uncommon. Patient concerns: We report a case of a 36-year-old phenotypical male with a chief complaint of an abdominal mass for 3 months. He reported normal erections and regular menses. Computerized tomography showed a large tumor measuring 15 × 10 cm in size, a uterus, and a cystic ovary. DOI:10.1097/MD.0000000000022530
46 XX, SRY Negative Ovotesticular DSD
We report here a 20 year old phenotypically male who presented with gynaecomastia and found to have testis on right side and left inguinoscrotal swelling consisting of ovary, uterus and fallopian tubes.
PMID: 31315334
Endocrine Management of Ovotesticular DSD, an Index Case and Review of the Literature
Abstract: Here, we describe the case of 46,XX, SRY-negative baby with ambiguous genitalia and ovotestis discovered during laparoscopy. As the family decided on female gender of rearing, the testicular component of the ovotestis was removed while the ovarian component was preserved.
PMID: 31763803 DOI: 10.17458/per.vol17.2019.kmv.endocrineovotesticulardsd
Puberty in Patients with Ovotesticular DSD: Evaluation of 20 Patients and Review of the Literature
Abstract Background: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data. Results: In a retrospective study of 31 patients, findings include predominantly male gender assignment at the time of referral (54.8%) and subsequent female gender of rearing (54.8%). The most frequent karyotype was 46,XX (58.1%). Ovotestis was the most frequent gonad (48.4%) Puberty could be evaluated in 20 patients, being spontaneous in 12 of them. Four patients with partial gonadectomy in infancy were able to enter female puberty spontaneously. PMID: 32741155 DOI: 10.17458/per.vol17.2020.msc.pubertyovotesticulardsd
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis
Abstract: Objective: SRY-negative 46,XX testicular and ovotesticular disorders/differences of sex development (T/OTDSD) represent a very rare and unique DSD condition where testicular tissue develops in the absence of a Y chromosome. To date, very few studies have described the phenotype, clinical and surgical management and long-term outcomes of these patients. Particularly, early blockade of the gonadotropic axis in patients raised in the female gender to minimize postnatal androgenization has never been reported. Results: Sixteen 46,XX SRY-negative T/OTDSD were included. Most (12/16) were diagnosed in the neonatal period. Sex of rearing was male for six patients and female for ten, while the clinical presentation varied, with an external masculinization score from 1 to 10. Five patients raised as girl were successfully treated with GnRH analog to avoid virilization during minipuberty. Ovotestes/testes were found bilaterally for 54% of the patients and unilaterally for the others (with a contralateral ovary). Gonadal surgery preserved appropriate tissue in the majority of cases. Spontaneous puberty occurred in two girls and one boy, while two boys required hormonal induction of puberty. One of the girls conceived spontaneously and had an uneventful pregnancy. DNA analyses (SNP-array, next-generation sequencing and whole-exome sequencing) were performed. A heterozygous frameshit mutation in the NR2F2 gene was identified in one patient.
Conclusions: This study presents a population of patients with 46,XX SRY-negative T/OTDSD. Early blockade of gonadotropic axis appears efficient to reduce and avoid further androgenization in patients raised as girls.